|
ENST00000335762.10:c.5765C>T
(CACNA1C)
|
ENSP00000336982.5:p.Ala1922Val
|
|
|
ENST00000399617.6:c.5795C>T
(CACNA1C)
|
ENSP00000382526.1:p.Ala1932Val
|
|
|
ENST00000399634.6:c.5870C>T
(CACNA1C)
|
ENSP00000382542.2:p.Ala1957Val
|
|
|
ENST00000406454.8:c.5903C>T
(CACNA1C)
|
ENSP00000385896.3:p.Ala1968Val
|
|
|
ENST00000682336.1:c.5732C>T
(CACNA1C)
|
ENSP00000507898.1:p.Ala1911Val
|
|
|
ENST00000682462.1:c.5780C>T
(CACNA1C)
|
ENSP00000507105.1:p.Ala1927Val
|
|
|
ENST00000682544.1:c.6029C>T
(CACNA1C)
|
ENSP00000507184.1:p.Ala2010Val
|
|
|
ENST00000682686.1:c.5657C>T
(CACNA1C)
|
ENSP00000507309.1:p.Ala1886Val
|
|
|
ENST00000682835.1:c.5690C>T
(CACNA1C)
|
ENSP00000507282.1:p.Ala1897Val
|
|
|
ENST00000683482.1:c.5681C>T
(CACNA1C)
|
ENSP00000507169.1:p.Ala1894Val
|
|
|
ENST00000683781.1:c.5780C>T
(CACNA1C)
|
ENSP00000507434.1:p.Ala1927Val
|
|
|
ENST00000683824.1:c.5855C>T
(CACNA1C)
|
ENSP00000507867.1:p.Ala1952Val
|
|
|
ENST00000683840.1:c.5780C>T
(CACNA1C)
|
ENSP00000507612.1:p.Ala1927Val
|
|
|
ENST00000683956.1:c.5780C>T
(CACNA1C)
|
ENSP00000506882.1:p.Ala1927Val
|
|
|
ENST00000684233.1:n.815C>T
(CACNA1C)
|
|
|
|
ENST00000684467.1:n.2193C>T
(CACNA1C)
|
|
|
|
ENST00000684752.1:n.820C>T
(CACNA1C)
|
|
|
|
ENST00000327702.12:c.5795C>T
(CACNA1C)
|
ENSP00000329877.7:p.Ala1932Val
|
|
|
ENST00000347598.9:c.5834C>T
(CACNA1C)
|
ENSP00000266376.6:p.Ala1945Val
|
|
|
ENST00000399603.6:c.5690C>T
(CACNA1C)
MANE Plus Clinical
|
ENSP00000382512.1:p.Ala1897Val
|
|
|
ENST00000399641.6:c.5690C>T
(CACNA1C)
|
ENSP00000382549.1:p.Ala1897Val
|
|
|
ENST00000399655.6:c.5690C>T
(CACNA1C)
MANE Select
|
ENSP00000382563.1:p.Ala1897Val
|
|
|
ENST00000327702.11:c.5795C>T
(CACNA1C)
|
ENSP00000329877.7:p.Ala1932Val
|
|
|
ENST00000335762.9:c.5765C>T
(CACNA1C)
|
ENSP00000336982.5:p.Ala1922Val
|
|
|
ENST00000344100.7:c.5813C>T
(CACNA1C)
|
ENSP00000341092.3:p.Ala1938Val
|
|
|
ENST00000347598.8:c.5834C>T
(CACNA1C)
|
ENSP00000266376.6:p.Ala1945Val
|
|
|
ENST00000399591.5:c.5714C>T
(CACNA1C)
|
ENSP00000382500.1:p.Ala1905Val
|
|
|
ENST00000399595.5:c.5714C>T
(CACNA1C)
|
ENSP00000382504.1:p.Ala1905Val
|
|
|
ENST00000399597.5:c.5690C>T
(CACNA1C)
|
ENSP00000382506.1:p.Ala1897Val
|
|
|
ENST00000399601.5:c.5690C>T
(CACNA1C)
|
ENSP00000382510.1:p.Ala1897Val
|
|
|
ENST00000399603.5:c.5690C>T
(CACNA1C)
|
ENSP00000382512.1:p.Ala1897Val
|
|
|
ENST00000399606.5:c.5750C>T
(CACNA1C)
|
ENSP00000382515.1:p.Ala1917Val
|
|
|
ENST00000399617.5:c.5795C>T
(CACNA1C)
|
ENSP00000382526.1:p.Ala1932Val
|
|
|
ENST00000399621.5:c.5747C>T
(CACNA1C)
|
ENSP00000382530.1:p.Ala1916Val
|
|
|
ENST00000399629.5:c.5741C>T
(CACNA1C)
|
ENSP00000382537.1:p.Ala1914Val
|
|
|
ENST00000399634.5:c.5903C>T
(CACNA1C)
|
ENSP00000382542.1:p.Ala1968Val
|
|
|
ENST00000399637.5:c.5747C>T
(CACNA1C)
|
ENSP00000382546.1:p.Ala1916Val
|
|
|
ENST00000399638.5:c.5774C>T
(CACNA1C)
|
ENSP00000382547.1:p.Ala1925Val
|
|
|
ENST00000399641.5:c.5690C>T
(CACNA1C)
|
ENSP00000382549.1:p.Ala1897Val
|
|
|
ENST00000399644.5:c.5690C>T
(CACNA1C)
|
ENSP00000382552.1:p.Ala1897Val
|
|
|
ENST00000399649.5:c.5708C>T
(CACNA1C)
|
ENSP00000382557.1:p.Ala1903Val
|
|
|
ENST00000399655.5:c.5690C>T
(CACNA1C)
|
ENSP00000382563.1:p.Ala1897Val
|
|
|
ENST00000402845.7:c.5747C>T
(CACNA1C)
|
ENSP00000385724.3:p.Ala1916Val
|
|
|
ENST00000406454.7:c.5903C>T
(CACNA1C)
|
ENSP00000385896.3:p.Ala1968Val
|
|
|
ENST00000613940.4:c.5318C>T
(CACNA1C)
|
ENSP00000483335.1:p.Ala1773Val
|
|
|
ENST00000615303.4:c.5462C>T
(CACNA1C)
|
ENSP00000480922.1:p.Ala1821Val
|
|
|
ENST00000615400.4:c.5357C>T
(CACNA1C)
|
ENSP00000480292.1:p.Ala1786Val
|
|
|
ENST00000616390.1:c.1763C>T
(CACNA1C)
|
ENSP00000482910.1:p.Ala588Val
|
|
|
ENST00000620878.4:c.5393C>T
(CACNA1C)
|
ENSP00000479029.1:p.Ala1798Val
|
|
|
ENST00000621625.4:c.5318C>T
(CACNA1C)
|
ENSP00000484796.1:p.Ala1773Val
|
|
|
NM_000719.6:c.5690C>T , LRG_334t1:c.5690C>T
(CACNA1C)
|
NP_000710.5:p.Ala1897Val
|
|
|
NM_001129827.1:c.5834C>T , LRG_334t2:c.5834C>T
(CACNA1C)
|
NP_001123299.1:p.Ala1945Val
|
|
|
NM_001129829.1:c.5813C>T
(CACNA1C)
|
NP_001123301.1:p.Ala1938Val
|
|
|
NM_001129830.2:c.5795C>T
(CACNA1C)
|
NP_001123302.2:p.Ala1932Val
|
|
|
NM_001129831.1:c.5774C>T
(CACNA1C)
|
NP_001123303.1:p.Ala1925Val
|
|
|
NM_001129832.1:c.5750C>T
(CACNA1C)
|
NP_001123304.1:p.Ala1917Val
|
|
|
NM_001129833.1:c.5747C>T
(CACNA1C)
|
NP_001123305.1:p.Ala1916Val
|
|
|
NM_001129834.1:c.5747C>T
(CACNA1C)
|
NP_001123306.1:p.Ala1916Val
|
|
|
NM_001129835.1:c.5747C>T
(CACNA1C)
|
NP_001123307.1:p.Ala1916Val
|
|
|
NM_001129836.1:c.5741C>T
(CACNA1C)
|
NP_001123308.1:p.Ala1914Val
|
|
|
NM_001129837.1:c.5714C>T
(CACNA1C)
|
NP_001123309.1:p.Ala1905Val
|
|
|
NM_001129838.1:c.5714C>T
(CACNA1C)
|
NP_001123310.1:p.Ala1905Val
|
|
|
NM_001129839.1:c.5708C>T
(CACNA1C)
|
NP_001123311.1:p.Ala1903Val
|
|
|
NM_001129840.1:c.5690C>T , LRG_334t4:c.5690C>T
(CACNA1C)
|
NP_001123312.1:p.Ala1897Val
|
|
|
NM_001129841.1:c.5690C>T
(CACNA1C)
|
NP_001123313.1:p.Ala1897Val
|
|
|
NM_001129842.1:c.5690C>T
(CACNA1C)
|
NP_001123314.1:p.Ala1897Val
|
|
|
NM_001129843.1:c.5690C>T
(CACNA1C)
|
NP_001123315.1:p.Ala1897Val
|
|
|
NM_001129844.1:c.5681C>T
(CACNA1C)
|
NP_001123316.1:p.Ala1894Val
|
|
|
NM_001129846.1:c.5657C>T
(CACNA1C)
|
NP_001123318.1:p.Ala1886Val
|
|
|
NM_001167623.1:c.5690C>T
(CACNA1C)
|
NP_001161095.1:p.Ala1897Val
|
|
|
NM_001167624.2:c.5795C>T
(CACNA1C)
|
NP_001161096.2:p.Ala1932Val
|
|
|
NM_001167625.1:c.5870C>T
(CACNA1C)
|
NP_001161097.1:p.Ala1957Val
|
|
|
NM_199460.3:c.5939C>T
(CACNA1C)
|
NP_955630.3:p.Ala1980Val
|
|
|
NR_045725.1:n.333+3965G>A
(CACNA1C-AS1)
|
|
|
|
XM_006719017.1:c.5780C>T
(CACNA1C)
|
XP_006719080.1:p.Ala1927Val
|
|
|
XM_011521017.1:c.5309C>T
(CACNA1C)
|
XP_011519319.1:p.Ala1770Val
|
|
|
XM_011521018.1:c.4754C>T
(CACNA1C)
|
XP_011519320.1:p.Ala1585Val
|
|
|
XM_011521019.1:c.2864C>T
(CACNA1C)
|
XP_011519321.1:p.Ala955Val
|
|
|
XM_011521020.1:c.5855C>T
(CACNA1C)
|
XP_011519322.1:p.Ala1952Val
|
|
|
XM_011521021.1:c.6008C>T
(CACNA1C)
|
XP_011519323.1:p.Ala2003Val
|
|
|
XM_011521022.1:c.6008C>T
(CACNA1C)
|
XP_011519324.1:p.Ala2003Val
|
|
|
XM_011521023.1:c.5765C>T
(CACNA1C)
|
XP_011519325.1:p.Ala1922Val
|
|
|
XM_006719017.2:c.5780C>T
(CACNA1C)
|
XP_006719080.1:p.Ala1927Val
|
|
|
XM_011521020.2:c.5855C>T
(CACNA1C)
|
XP_011519322.1:p.Ala1952Val
|
|
|
XM_011521023.3:c.5765C>T
(CACNA1C)
|
XP_011519325.1:p.Ala1922Val
|
|
|
XM_017019926.2:c.6512C>T
(CACNA1C)
|
XP_016875415.1:p.Ala2171Val
|
|
|
XM_017019927.2:c.6407C>T
(CACNA1C)
|
XP_016875416.1:p.Ala2136Val
|
|
|
XM_017019928.2:c.6194C>T
(CACNA1C)
|
XP_016875417.1:p.Ala2065Val
|
|
|
XM_017019929.2:c.6137C>T
(CACNA1C)
|
XP_016875418.1:p.Ala2046Val
|
|
|
XM_017019930.2:c.6137C>T
(CACNA1C)
|
XP_016875419.1:p.Ala2046Val
|
|
|
XM_017019931.2:c.6053C>T
(CACNA1C)
|
XP_016875420.1:p.Ala2018Val
|
|
|
XM_017019932.2:c.6038C>T
(CACNA1C)
|
XP_016875421.1:p.Ala2013Val
|
|
|
XM_017019933.2:c.5942C>T
(CACNA1C)
|
XP_016875422.1:p.Ala1981Val
|
|
|
XM_017019934.2:c.5933C>T
(CACNA1C)
|
XP_016875423.1:p.Ala1978Val
|
|
|
XM_017019935.2:c.5933C>T
(CACNA1C)
|
XP_016875424.1:p.Ala1978Val
|
|
|
XM_017019936.2:c.5915C>T
(CACNA1C)
|
XP_016875425.1:p.Ala1972Val
|
|
|
XM_017019937.2:c.5915C>T
(CACNA1C)
|
XP_016875426.1:p.Ala1972Val
|
|
|
XM_017019938.2:c.5915C>T
(CACNA1C)
|
XP_016875427.1:p.Ala1972Val
|
|
|
XM_017019939.2:c.5909C>T
(CACNA1C)
|
XP_016875428.1:p.Ala1970Val
|
|
|
XM_017019940.2:c.5882C>T
(CACNA1C)
|
XP_016875429.1:p.Ala1961Val
|
|
|
XM_017019941.2:c.5876C>T
(CACNA1C)
|
XP_016875430.1:p.Ala1959Val
|
|
|
XM_017019942.2:c.5858C>T
(CACNA1C)
|
XP_016875431.1:p.Ala1953Val
|
|
|
XM_017019943.2:c.5858C>T
(CACNA1C)
|
XP_016875432.1:p.Ala1953Val
|
|
|
XM_017019944.2:c.5858C>T
(CACNA1C)
|
XP_016875433.1:p.Ala1953Val
|
|
|
XM_017019945.2:c.5858C>T
(CACNA1C)
|
XP_016875434.1:p.Ala1953Val
|
|
|
XM_017019946.2:c.5858C>T
(CACNA1C)
|
XP_016875435.1:p.Ala1953Val
|
|
|
XM_017019947.2:c.5858C>T
(CACNA1C)
|
XP_016875436.1:p.Ala1953Val
|
|
|
XM_017019948.2:c.5858C>T
(CACNA1C)
|
XP_016875437.1:p.Ala1953Val
|
|
|
XM_017019949.2:c.5858C>T
(CACNA1C)
|
XP_016875438.1:p.Ala1953Val
|
|
|
XM_017019950.2:c.5852C>T
(CACNA1C)
|
XP_016875439.1:p.Ala1951Val
|
|
|
XM_017019951.2:c.5849C>T
(CACNA1C)
|
XP_016875440.1:p.Ala1950Val
|
|
|
XM_017019952.2:c.5825C>T
(CACNA1C)
|
XP_016875441.1:p.Ala1942Val
|
|
|
XM_017019953.1:c.5780C>T
(CACNA1C)
|
XP_016875442.1:p.Ala1927Val
|
|
|
XM_017019954.1:c.5780C>T
(CACNA1C)
|
XP_016875443.1:p.Ala1927Val
|
|
|
XM_017019955.2:c.5933C>T
(CACNA1C)
|
XP_016875444.1:p.Ala1978Val
|
|
|
NM_000719.7:c.5690C>T
(CACNA1C)
MANE Select
|
NP_000710.5:p.Ala1897Val
|
|
|
NM_001129827.2:c.5834C>T
(CACNA1C)
|
NP_001123299.1:p.Ala1945Val
|
|
|
NM_001129830.3:c.5795C>T
(CACNA1C)
|
NP_001123302.2:p.Ala1932Val
|
|
|
NM_001129840.2:c.5690C>T
(CACNA1C)
|
NP_001123312.1:p.Ala1897Val
|
|
|
NM_001167623.2:c.5690C>T
(CACNA1C)
MANE Plus Clinical
|
NP_001161095.1:p.Ala1897Val
|
|
|
NM_001129829.2:c.5813C>T
(CACNA1C)
|
NP_001123301.1:p.Ala1938Val
|
|
|
NM_001129831.2:c.5774C>T
(CACNA1C)
|
NP_001123303.1:p.Ala1925Val
|
|
|
NM_001129832.2:c.5750C>T
(CACNA1C)
|
NP_001123304.1:p.Ala1917Val
|
|
|
NM_001129833.2:c.5747C>T
(CACNA1C)
|
NP_001123305.1:p.Ala1916Val
|
|
|
NM_001129834.2:c.5747C>T
(CACNA1C)
|
NP_001123306.1:p.Ala1916Val
|
|
|
NM_001129835.2:c.5747C>T
(CACNA1C)
|
NP_001123307.1:p.Ala1916Val
|
|
|
NM_001129836.2:c.5741C>T
(CACNA1C)
|
NP_001123308.1:p.Ala1914Val
|
|
|
NM_001129837.2:c.5714C>T
(CACNA1C)
|
NP_001123309.1:p.Ala1905Val
|
|
|
NM_001129838.2:c.5714C>T
(CACNA1C)
|
NP_001123310.1:p.Ala1905Val
|
|
|
NM_001129839.2:c.5708C>T
(CACNA1C)
|
NP_001123311.1:p.Ala1903Val
|
|
|
NM_001129841.2:c.5690C>T
(CACNA1C)
|
NP_001123313.1:p.Ala1897Val
|
|
|
NM_001129842.2:c.5690C>T
(CACNA1C)
|
NP_001123314.1:p.Ala1897Val
|
|
|
NM_001129843.2:c.5690C>T
(CACNA1C)
|
NP_001123315.1:p.Ala1897Val
|
|
|
NM_001129844.2:c.5681C>T
(CACNA1C)
|
NP_001123316.1:p.Ala1894Val
|
|
|
NM_001129846.2:c.5657C>T
(CACNA1C)
|
NP_001123318.1:p.Ala1886Val
|
|
|
NM_001167624.3:c.5795C>T
(CACNA1C)
|
NP_001161096.2:p.Ala1932Val
|
|
|
NM_001167625.2:c.5870C>T
(CACNA1C)
|
NP_001161097.1:p.Ala1957Val
|
|
|
NM_199460.4:c.5939C>T
(CACNA1C)
|
NP_955630.3:p.Ala1980Val
|
|
