Canonical Allele Identifier: CA383386794
Community Standard Title: NM_000719.7(CACNA1C):c.6268C>G (p.Pro2090Ala)
Gene: CACNA1C HGNC NCBI
CACNA1C-AS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.2691050C>G , CM000674.2:g.2691050C>G GRCh38
NC_000012.11:g.2800216C>G , CM000674.1:g.2800216C>G GRCh37
NC_000012.10:g.2670477C>G NCBI36
NG_008801.2:g.725265C>G , LRG_334:g.725265C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000719.7:c.6268C>G (CACNA1C) MANE Select NP_000710.5:p.Pro2090Ala
ENST00000399655.6:c.6268C>G (CACNA1C) MANE Select ENSP00000382563.1:p.Pro2090Ala
NM_001167623.2:c.6268C>G (CACNA1C) MANE Plus Clinical NP_001161095.1:p.Pro2090Ala
ENST00000399603.6:c.6268C>G (CACNA1C) MANE Plus Clinical ENSP00000382512.1:p.Pro2090Ala
NM_000719.6:c.6268C>G , LRG_334t1:c.6268C>G (CACNA1C) NP_000710.5:p.Pro2090Ala
NM_001129827.1:c.6412C>G , LRG_334t2:c.6412C>G (CACNA1C) NP_001123299.1:p.Pro2138Ala
NM_001129827.2:c.6412C>G (CACNA1C) NP_001123299.1:p.Pro2138Ala
NM_001129829.1:c.6391C>G (CACNA1C) NP_001123301.1:p.Pro2131Ala
NM_001129829.2:c.6391C>G (CACNA1C) NP_001123301.1:p.Pro2131Ala
NM_001129830.2:c.6373C>G (CACNA1C) NP_001123302.2:p.Pro2125Ala
NM_001129830.3:c.6373C>G (CACNA1C) NP_001123302.2:p.Pro2125Ala
NM_001129831.1:c.6352C>G (CACNA1C) NP_001123303.1:p.Pro2118Ala
NM_001129831.2:c.6352C>G (CACNA1C) NP_001123303.1:p.Pro2118Ala
NM_001129832.1:c.6328C>G (CACNA1C) NP_001123304.1:p.Pro2110Ala
NM_001129832.2:c.6328C>G (CACNA1C) NP_001123304.1:p.Pro2110Ala
NM_001129833.1:c.6325C>G (CACNA1C) NP_001123305.1:p.Pro2109Ala
NM_001129833.2:c.6325C>G (CACNA1C) NP_001123305.1:p.Pro2109Ala
NM_001129834.1:c.6325C>G (CACNA1C) NP_001123306.1:p.Pro2109Ala
NM_001129834.2:c.6325C>G (CACNA1C) NP_001123306.1:p.Pro2109Ala
NM_001129835.1:c.6325C>G (CACNA1C) NP_001123307.1:p.Pro2109Ala
NM_001129835.2:c.6325C>G (CACNA1C) NP_001123307.1:p.Pro2109Ala
NM_001129836.1:c.6319C>G (CACNA1C) NP_001123308.1:p.Pro2107Ala
NM_001129836.2:c.6319C>G (CACNA1C) NP_001123308.1:p.Pro2107Ala
NM_001129837.1:c.6292C>G (CACNA1C) NP_001123309.1:p.Pro2098Ala
NM_001129837.2:c.6292C>G (CACNA1C) NP_001123309.1:p.Pro2098Ala
NM_001129838.1:c.6292C>G (CACNA1C) NP_001123310.1:p.Pro2098Ala
NM_001129838.2:c.6292C>G (CACNA1C) NP_001123310.1:p.Pro2098Ala
NM_001129839.1:c.6286C>G (CACNA1C) NP_001123311.1:p.Pro2096Ala
NM_001129839.2:c.6286C>G (CACNA1C) NP_001123311.1:p.Pro2096Ala
NM_001129840.1:c.6268C>G , LRG_334t4:c.6268C>G (CACNA1C) NP_001123312.1:p.Pro2090Ala
NM_001129840.2:c.6268C>G (CACNA1C) NP_001123312.1:p.Pro2090Ala
NM_001129841.1:c.6268C>G (CACNA1C) NP_001123313.1:p.Pro2090Ala
NM_001129841.2:c.6268C>G (CACNA1C) NP_001123313.1:p.Pro2090Ala
NM_001129842.1:c.6268C>G (CACNA1C) NP_001123314.1:p.Pro2090Ala
NM_001129842.2:c.6268C>G (CACNA1C) NP_001123314.1:p.Pro2090Ala
NM_001129843.1:c.6268C>G (CACNA1C) NP_001123315.1:p.Pro2090Ala
NM_001129843.2:c.6268C>G (CACNA1C) NP_001123315.1:p.Pro2090Ala
NM_001129844.1:c.6259C>G (CACNA1C) NP_001123316.1:p.Pro2087Ala
NM_001129844.2:c.6259C>G (CACNA1C) NP_001123316.1:p.Pro2087Ala
NM_001129846.1:c.6235C>G (CACNA1C) NP_001123318.1:p.Pro2079Ala
NM_001129846.2:c.6235C>G (CACNA1C) NP_001123318.1:p.Pro2079Ala
NM_001167623.1:c.6268C>G (CACNA1C) NP_001161095.1:p.Pro2090Ala
NM_001167624.2:c.6373C>G (CACNA1C) NP_001161096.2:p.Pro2125Ala
NM_001167624.3:c.6373C>G (CACNA1C) NP_001161096.2:p.Pro2125Ala
NM_001167625.1:c.6448C>G (CACNA1C) NP_001161097.1:p.Pro2150Ala
NM_001167625.2:c.6448C>G (CACNA1C) NP_001161097.1:p.Pro2150Ala
NM_199460.3:c.6517C>G (CACNA1C) NP_955630.3:p.Pro2173Ala
NM_199460.4:c.6517C>G (CACNA1C) NP_955630.3:p.Pro2173Ala
NR_045725.1:n.89+19G>C (CACNA1C-AS1)
ENST00000327702.11:c.6373C>G (CACNA1C) ENSP00000329877.7:p.Pro2125Ala
ENST00000327702.12:c.6373C>G (CACNA1C) ENSP00000329877.7:p.Pro2125Ala
ENST00000335762.10:c.6343C>G (CACNA1C) ENSP00000336982.5:p.Pro2115Ala
ENST00000335762.9:c.6343C>G (CACNA1C) ENSP00000336982.5:p.Pro2115Ala
ENST00000344100.7:c.6391C>G (CACNA1C) ENSP00000341092.3:p.Pro2131Ala
ENST00000347598.8:c.6412C>G (CACNA1C) ENSP00000266376.6:p.Pro2138Ala
ENST00000347598.9:c.6412C>G (CACNA1C) ENSP00000266376.6:p.Pro2138Ala
ENST00000399591.5:c.6292C>G (CACNA1C) ENSP00000382500.1:p.Pro2098Ala
ENST00000399595.5:c.6292C>G (CACNA1C) ENSP00000382504.1:p.Pro2098Ala
ENST00000399597.5:c.6268C>G (CACNA1C) ENSP00000382506.1:p.Pro2090Ala
ENST00000399601.5:c.6268C>G (CACNA1C) ENSP00000382510.1:p.Pro2090Ala
ENST00000399603.5:c.6268C>G (CACNA1C) ENSP00000382512.1:p.Pro2090Ala
ENST00000399606.5:c.6328C>G (CACNA1C) ENSP00000382515.1:p.Pro2110Ala
ENST00000399617.5:c.6373C>G (CACNA1C) ENSP00000382526.1:p.Pro2125Ala
ENST00000399617.6:c.6373C>G (CACNA1C) ENSP00000382526.1:p.Pro2125Ala
ENST00000399621.5:c.6325C>G (CACNA1C) ENSP00000382530.1:p.Pro2109Ala
ENST00000399629.5:c.6319C>G (CACNA1C) ENSP00000382537.1:p.Pro2107Ala
ENST00000399634.5:c.6481C>G (CACNA1C) ENSP00000382542.1:p.Pro2161Ala
ENST00000399634.6:c.6448C>G (CACNA1C) ENSP00000382542.2:p.Pro2150Ala
ENST00000399637.5:c.6325C>G (CACNA1C) ENSP00000382546.1:p.Pro2109Ala
ENST00000399638.5:c.6352C>G (CACNA1C) ENSP00000382547.1:p.Pro2118Ala
ENST00000399641.5:c.6268C>G (CACNA1C) ENSP00000382549.1:p.Pro2090Ala
ENST00000399641.6:c.6268C>G (CACNA1C) ENSP00000382549.1:p.Pro2090Ala
ENST00000399644.5:c.6268C>G (CACNA1C) ENSP00000382552.1:p.Pro2090Ala
ENST00000399649.5:c.6286C>G (CACNA1C) ENSP00000382557.1:p.Pro2096Ala
ENST00000399655.5:c.6268C>G (CACNA1C) ENSP00000382563.1:p.Pro2090Ala
ENST00000402845.7:c.6325C>G (CACNA1C) ENSP00000385724.3:p.Pro2109Ala
ENST00000406454.7:c.6481C>G (CACNA1C) ENSP00000385896.3:p.Pro2161Ala
ENST00000406454.8:c.6481C>G (CACNA1C) ENSP00000385896.3:p.Pro2161Ala
ENST00000613940.4:c.5896C>G (CACNA1C) ENSP00000483335.1:p.Pro1966Ala
ENST00000615303.4:c.6040C>G (CACNA1C) ENSP00000480922.1:p.Pro2014Ala
ENST00000615400.4:c.5935C>G (CACNA1C) ENSP00000480292.1:p.Pro1979Ala
ENST00000616390.1:c.2341C>G (CACNA1C) ENSP00000482910.1:p.Pro781Ala
ENST00000620878.4:c.5971C>G (CACNA1C) ENSP00000479029.1:p.Pro1991Ala
ENST00000621625.4:c.5896C>G (CACNA1C) ENSP00000484796.1:p.Pro1966Ala
ENST00000682336.1:c.6310C>G (CACNA1C) ENSP00000507898.1:p.Pro2104Ala
ENST00000682462.1:c.6358C>G (CACNA1C) ENSP00000507105.1:p.Pro2120Ala
ENST00000682544.1:c.6607C>G (CACNA1C) ENSP00000507184.1:p.Pro2203Ala
ENST00000682686.1:c.6235C>G (CACNA1C) ENSP00000507309.1:p.Pro2079Ala
ENST00000682835.1:c.6268C>G (CACNA1C) ENSP00000507282.1:p.Pro2090Ala
ENST00000683482.1:c.6259C>G (CACNA1C) ENSP00000507169.1:p.Pro2087Ala
ENST00000683781.1:c.6358C>G (CACNA1C) ENSP00000507434.1:p.Pro2120Ala
ENST00000683824.1:c.6433C>G (CACNA1C) ENSP00000507867.1:p.Pro2145Ala
ENST00000683840.1:c.6358C>G (CACNA1C) ENSP00000507612.1:p.Pro2120Ala
ENST00000683956.1:c.6358C>G (CACNA1C) ENSP00000506882.1:p.Pro2120Ala
ENST00000684467.1:n.2771C>G (CACNA1C)
XM_006719017.1:c.6358C>G (CACNA1C) XP_006719080.1:p.Pro2120Ala
XM_006719017.2:c.6358C>G (CACNA1C) XP_006719080.1:p.Pro2120Ala
XM_011521017.1:c.5887C>G (CACNA1C) XP_011519319.1:p.Pro1963Ala
XM_011521018.1:c.5332C>G (CACNA1C) XP_011519320.1:p.Pro1778Ala
XM_011521019.1:c.3442C>G (CACNA1C) XP_011519321.1:p.Pro1148Ala
XM_011521020.1:c.6433C>G (CACNA1C) XP_011519322.1:p.Pro2145Ala
XM_011521020.2:c.6433C>G (CACNA1C) XP_011519322.1:p.Pro2145Ala
XM_011521021.1:c.6586C>G (CACNA1C) XP_011519323.1:p.Pro2196Ala
XM_011521022.1:c.6586C>G (CACNA1C) XP_011519324.1:p.Pro2196Ala
XM_011521023.1:c.6343C>G (CACNA1C) XP_011519325.1:p.Pro2115Ala
XM_011521023.3:c.6343C>G (CACNA1C) XP_011519325.1:p.Pro2115Ala
XM_017019926.2:c.7090C>G (CACNA1C) XP_016875415.1:p.Pro2364Ala
XM_017019927.2:c.6985C>G (CACNA1C) XP_016875416.1:p.Pro2329Ala
XM_017019928.2:c.6772C>G (CACNA1C) XP_016875417.1:p.Pro2258Ala
XM_017019929.2:c.6715C>G (CACNA1C) XP_016875418.1:p.Pro2239Ala
XM_017019930.2:c.6715C>G (CACNA1C) XP_016875419.1:p.Pro2239Ala
XM_017019931.2:c.6631C>G (CACNA1C) XP_016875420.1:p.Pro2211Ala
XM_017019932.2:c.6616C>G (CACNA1C) XP_016875421.1:p.Pro2206Ala
XM_017019933.2:c.6520C>G (CACNA1C) XP_016875422.1:p.Pro2174Ala
XM_017019934.2:c.6511C>G (CACNA1C) XP_016875423.1:p.Pro2171Ala
XM_017019935.2:c.6511C>G (CACNA1C) XP_016875424.1:p.Pro2171Ala
XM_017019936.2:c.6493C>G (CACNA1C) XP_016875425.1:p.Pro2165Ala
XM_017019937.2:c.6493C>G (CACNA1C) XP_016875426.1:p.Pro2165Ala
XM_017019938.2:c.6493C>G (CACNA1C) XP_016875427.1:p.Pro2165Ala
XM_017019939.2:c.6487C>G (CACNA1C) XP_016875428.1:p.Pro2163Ala
XM_017019940.2:c.6460C>G (CACNA1C) XP_016875429.1:p.Pro2154Ala
XM_017019941.2:c.6454C>G (CACNA1C) XP_016875430.1:p.Pro2152Ala
XM_017019942.2:c.6436C>G (CACNA1C) XP_016875431.1:p.Pro2146Ala
XM_017019943.2:c.6436C>G (CACNA1C) XP_016875432.1:p.Pro2146Ala
XM_017019944.2:c.6436C>G (CACNA1C) XP_016875433.1:p.Pro2146Ala
XM_017019945.2:c.6436C>G (CACNA1C) XP_016875434.1:p.Pro2146Ala
XM_017019946.2:c.6436C>G (CACNA1C) XP_016875435.1:p.Pro2146Ala
XM_017019947.2:c.6436C>G (CACNA1C) XP_016875436.1:p.Pro2146Ala
XM_017019948.2:c.6436C>G (CACNA1C) XP_016875437.1:p.Pro2146Ala
XM_017019949.2:c.6436C>G (CACNA1C) XP_016875438.1:p.Pro2146Ala
XM_017019950.2:c.6430C>G (CACNA1C) XP_016875439.1:p.Pro2144Ala
XM_017019951.2:c.6427C>G (CACNA1C) XP_016875440.1:p.Pro2143Ala
XM_017019952.2:c.6403C>G (CACNA1C) XP_016875441.1:p.Pro2135Ala
XM_017019953.1:c.6358C>G (CACNA1C) XP_016875442.1:p.Pro2120Ala
XM_017019954.1:c.6358C>G (CACNA1C) XP_016875443.1:p.Pro2120Ala
XM_017019955.2:c.6511C>G (CACNA1C) XP_016875444.1:p.Pro2171Ala
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