Canonical Allele Identifier: CA383382549
Gene: CACNA1C HGNC NCBI
CACNA1C-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.2795358T>G (hg19) chr12:g.2686192T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.2686192T>G , CM000674.2:g.2686192T>G GRCh38
NC_000012.11:g.2795358T>G , CM000674.1:g.2795358T>G GRCh37
NC_000012.10:g.2665619T>G NCBI36
NG_008801.2:g.720407T>G , LRG_334:g.720407T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000335762.10:c.5782T>G (CACNA1C) ENSP00000336982.5:p.Cys1928Gly
ENST00000399617.6:c.5812T>G (CACNA1C) ENSP00000382526.1:p.Cys1938Gly
ENST00000399634.6:c.5887T>G (CACNA1C) ENSP00000382542.2:p.Cys1963Gly
ENST00000406454.8:c.5920T>G (CACNA1C) ENSP00000385896.3:p.Cys1974Gly
ENST00000682336.1:c.5749T>G (CACNA1C) ENSP00000507898.1:p.Cys1917Gly
ENST00000682462.1:c.5797T>G (CACNA1C) ENSP00000507105.1:p.Cys1933Gly
ENST00000682544.1:c.6046T>G (CACNA1C) ENSP00000507184.1:p.Cys2016Gly
ENST00000682686.1:c.5674T>G (CACNA1C) ENSP00000507309.1:p.Cys1892Gly
ENST00000682835.1:c.5707T>G (CACNA1C) ENSP00000507282.1:p.Cys1903Gly
ENST00000683482.1:c.5698T>G (CACNA1C) ENSP00000507169.1:p.Cys1900Gly
ENST00000683781.1:c.5797T>G (CACNA1C) ENSP00000507434.1:p.Cys1933Gly
ENST00000683824.1:c.5872T>G (CACNA1C) ENSP00000507867.1:p.Cys1958Gly
ENST00000683840.1:c.5797T>G (CACNA1C) ENSP00000507612.1:p.Cys1933Gly
ENST00000683956.1:c.5797T>G (CACNA1C) ENSP00000506882.1:p.Cys1933Gly
ENST00000684233.1:n.832T>G (CACNA1C)
ENST00000684467.1:n.2210T>G (CACNA1C)
ENST00000684752.1:n.837T>G (CACNA1C)
ENST00000327702.12:c.5812T>G (CACNA1C) ENSP00000329877.7:p.Cys1938Gly
ENST00000347598.9:c.5851T>G (CACNA1C) ENSP00000266376.6:p.Cys1951Gly
ENST00000399603.6:c.5707T>G (CACNA1C) MANE Plus Clinical ENSP00000382512.1:p.Cys1903Gly
ENST00000399641.6:c.5707T>G (CACNA1C) ENSP00000382549.1:p.Cys1903Gly
ENST00000399655.6:c.5707T>G (CACNA1C) MANE Select ENSP00000382563.1:p.Cys1903Gly
ENST00000327702.11:c.5812T>G (CACNA1C) ENSP00000329877.7:p.Cys1938Gly
ENST00000335762.9:c.5782T>G (CACNA1C) ENSP00000336982.5:p.Cys1928Gly
ENST00000344100.7:c.5830T>G (CACNA1C) ENSP00000341092.3:p.Cys1944Gly
ENST00000347598.8:c.5851T>G (CACNA1C) ENSP00000266376.6:p.Cys1951Gly
ENST00000399591.5:c.5731T>G (CACNA1C) ENSP00000382500.1:p.Cys1911Gly
ENST00000399595.5:c.5731T>G (CACNA1C) ENSP00000382504.1:p.Cys1911Gly
ENST00000399597.5:c.5707T>G (CACNA1C) ENSP00000382506.1:p.Cys1903Gly
ENST00000399601.5:c.5707T>G (CACNA1C) ENSP00000382510.1:p.Cys1903Gly
ENST00000399603.5:c.5707T>G (CACNA1C) ENSP00000382512.1:p.Cys1903Gly
ENST00000399606.5:c.5767T>G (CACNA1C) ENSP00000382515.1:p.Cys1923Gly
ENST00000399617.5:c.5812T>G (CACNA1C) ENSP00000382526.1:p.Cys1938Gly
ENST00000399621.5:c.5764T>G (CACNA1C) ENSP00000382530.1:p.Cys1922Gly
ENST00000399629.5:c.5758T>G (CACNA1C) ENSP00000382537.1:p.Cys1920Gly
ENST00000399634.5:c.5920T>G (CACNA1C) ENSP00000382542.1:p.Cys1974Gly
ENST00000399637.5:c.5764T>G (CACNA1C) ENSP00000382546.1:p.Cys1922Gly
ENST00000399638.5:c.5791T>G (CACNA1C) ENSP00000382547.1:p.Cys1931Gly
ENST00000399641.5:c.5707T>G (CACNA1C) ENSP00000382549.1:p.Cys1903Gly
ENST00000399644.5:c.5707T>G (CACNA1C) ENSP00000382552.1:p.Cys1903Gly
ENST00000399649.5:c.5725T>G (CACNA1C) ENSP00000382557.1:p.Cys1909Gly
ENST00000399655.5:c.5707T>G (CACNA1C) ENSP00000382563.1:p.Cys1903Gly
ENST00000402845.7:c.5764T>G (CACNA1C) ENSP00000385724.3:p.Cys1922Gly
ENST00000406454.7:c.5920T>G (CACNA1C) ENSP00000385896.3:p.Cys1974Gly
ENST00000613940.4:c.5335T>G (CACNA1C) ENSP00000483335.1:p.Cys1779Gly
ENST00000615303.4:c.5479T>G (CACNA1C) ENSP00000480922.1:p.Cys1827Gly
ENST00000615400.4:c.5374T>G (CACNA1C) ENSP00000480292.1:p.Cys1792Gly
ENST00000616390.1:c.1780T>G (CACNA1C) ENSP00000482910.1:p.Cys594Gly
ENST00000620878.4:c.5410T>G (CACNA1C) ENSP00000479029.1:p.Cys1804Gly
ENST00000621625.4:c.5335T>G (CACNA1C) ENSP00000484796.1:p.Cys1779Gly
NM_000719.6:c.5707T>G , LRG_334t1:c.5707T>G (CACNA1C) NP_000710.5:p.Cys1903Gly
NM_001129827.1:c.5851T>G , LRG_334t2:c.5851T>G (CACNA1C) NP_001123299.1:p.Cys1951Gly
NM_001129829.1:c.5830T>G (CACNA1C) NP_001123301.1:p.Cys1944Gly
NM_001129830.2:c.5812T>G (CACNA1C) NP_001123302.2:p.Cys1938Gly
NM_001129831.1:c.5791T>G (CACNA1C) NP_001123303.1:p.Cys1931Gly
NM_001129832.1:c.5767T>G (CACNA1C) NP_001123304.1:p.Cys1923Gly
NM_001129833.1:c.5764T>G (CACNA1C) NP_001123305.1:p.Cys1922Gly
NM_001129834.1:c.5764T>G (CACNA1C) NP_001123306.1:p.Cys1922Gly
NM_001129835.1:c.5764T>G (CACNA1C) NP_001123307.1:p.Cys1922Gly
NM_001129836.1:c.5758T>G (CACNA1C) NP_001123308.1:p.Cys1920Gly
NM_001129837.1:c.5731T>G (CACNA1C) NP_001123309.1:p.Cys1911Gly
NM_001129838.1:c.5731T>G (CACNA1C) NP_001123310.1:p.Cys1911Gly
NM_001129839.1:c.5725T>G (CACNA1C) NP_001123311.1:p.Cys1909Gly
NM_001129840.1:c.5707T>G , LRG_334t4:c.5707T>G (CACNA1C) NP_001123312.1:p.Cys1903Gly
NM_001129841.1:c.5707T>G (CACNA1C) NP_001123313.1:p.Cys1903Gly
NM_001129842.1:c.5707T>G (CACNA1C) NP_001123314.1:p.Cys1903Gly
NM_001129843.1:c.5707T>G (CACNA1C) NP_001123315.1:p.Cys1903Gly
NM_001129844.1:c.5698T>G (CACNA1C) NP_001123316.1:p.Cys1900Gly
NM_001129846.1:c.5674T>G (CACNA1C) NP_001123318.1:p.Cys1892Gly
NM_001167623.1:c.5707T>G (CACNA1C) NP_001161095.1:p.Cys1903Gly
NM_001167624.2:c.5812T>G (CACNA1C) NP_001161096.2:p.Cys1938Gly
NM_001167625.1:c.5887T>G (CACNA1C) NP_001161097.1:p.Cys1963Gly
NM_199460.3:c.5956T>G (CACNA1C) NP_955630.3:p.Cys1986Gly
NR_045725.1:n.333+3948A>C (CACNA1C-AS1)
XM_006719017.1:c.5797T>G (CACNA1C) XP_006719080.1:p.Cys1933Gly
XM_011521017.1:c.5326T>G (CACNA1C) XP_011519319.1:p.Cys1776Gly
XM_011521018.1:c.4771T>G (CACNA1C) XP_011519320.1:p.Cys1591Gly
XM_011521019.1:c.2881T>G (CACNA1C) XP_011519321.1:p.Cys961Gly
XM_011521020.1:c.5872T>G (CACNA1C) XP_011519322.1:p.Cys1958Gly
XM_011521021.1:c.6025T>G (CACNA1C) XP_011519323.1:p.Cys2009Gly
XM_011521022.1:c.6025T>G (CACNA1C) XP_011519324.1:p.Cys2009Gly
XM_011521023.1:c.5782T>G (CACNA1C) XP_011519325.1:p.Cys1928Gly
XM_006719017.2:c.5797T>G (CACNA1C) XP_006719080.1:p.Cys1933Gly
XM_011521020.2:c.5872T>G (CACNA1C) XP_011519322.1:p.Cys1958Gly
XM_011521023.3:c.5782T>G (CACNA1C) XP_011519325.1:p.Cys1928Gly
XM_017019926.2:c.6529T>G (CACNA1C) XP_016875415.1:p.Cys2177Gly
XM_017019927.2:c.6424T>G (CACNA1C) XP_016875416.1:p.Cys2142Gly
XM_017019928.2:c.6211T>G (CACNA1C) XP_016875417.1:p.Cys2071Gly
XM_017019929.2:c.6154T>G (CACNA1C) XP_016875418.1:p.Cys2052Gly
XM_017019930.2:c.6154T>G (CACNA1C) XP_016875419.1:p.Cys2052Gly
XM_017019931.2:c.6070T>G (CACNA1C) XP_016875420.1:p.Cys2024Gly
XM_017019932.2:c.6055T>G (CACNA1C) XP_016875421.1:p.Cys2019Gly
XM_017019933.2:c.5959T>G (CACNA1C) XP_016875422.1:p.Cys1987Gly
XM_017019934.2:c.5950T>G (CACNA1C) XP_016875423.1:p.Cys1984Gly
XM_017019935.2:c.5950T>G (CACNA1C) XP_016875424.1:p.Cys1984Gly
XM_017019936.2:c.5932T>G (CACNA1C) XP_016875425.1:p.Cys1978Gly
XM_017019937.2:c.5932T>G (CACNA1C) XP_016875426.1:p.Cys1978Gly
XM_017019938.2:c.5932T>G (CACNA1C) XP_016875427.1:p.Cys1978Gly
XM_017019939.2:c.5926T>G (CACNA1C) XP_016875428.1:p.Cys1976Gly
XM_017019940.2:c.5899T>G (CACNA1C) XP_016875429.1:p.Cys1967Gly
XM_017019941.2:c.5893T>G (CACNA1C) XP_016875430.1:p.Cys1965Gly
XM_017019942.2:c.5875T>G (CACNA1C) XP_016875431.1:p.Cys1959Gly
XM_017019943.2:c.5875T>G (CACNA1C) XP_016875432.1:p.Cys1959Gly
XM_017019944.2:c.5875T>G (CACNA1C) XP_016875433.1:p.Cys1959Gly
XM_017019945.2:c.5875T>G (CACNA1C) XP_016875434.1:p.Cys1959Gly
XM_017019946.2:c.5875T>G (CACNA1C) XP_016875435.1:p.Cys1959Gly
XM_017019947.2:c.5875T>G (CACNA1C) XP_016875436.1:p.Cys1959Gly
XM_017019948.2:c.5875T>G (CACNA1C) XP_016875437.1:p.Cys1959Gly
XM_017019949.2:c.5875T>G (CACNA1C) XP_016875438.1:p.Cys1959Gly
XM_017019950.2:c.5869T>G (CACNA1C) XP_016875439.1:p.Cys1957Gly
XM_017019951.2:c.5866T>G (CACNA1C) XP_016875440.1:p.Cys1956Gly
XM_017019952.2:c.5842T>G (CACNA1C) XP_016875441.1:p.Cys1948Gly
XM_017019953.1:c.5797T>G (CACNA1C) XP_016875442.1:p.Cys1933Gly
XM_017019954.1:c.5797T>G (CACNA1C) XP_016875443.1:p.Cys1933Gly
XM_017019955.2:c.5950T>G (CACNA1C) XP_016875444.1:p.Cys1984Gly
NM_000719.7:c.5707T>G (CACNA1C) MANE Select NP_000710.5:p.Cys1903Gly
NM_001129827.2:c.5851T>G (CACNA1C) NP_001123299.1:p.Cys1951Gly
NM_001129830.3:c.5812T>G (CACNA1C) NP_001123302.2:p.Cys1938Gly
NM_001129840.2:c.5707T>G (CACNA1C) NP_001123312.1:p.Cys1903Gly
NM_001167623.2:c.5707T>G (CACNA1C) MANE Plus Clinical NP_001161095.1:p.Cys1903Gly
NM_001129829.2:c.5830T>G (CACNA1C) NP_001123301.1:p.Cys1944Gly
NM_001129831.2:c.5791T>G (CACNA1C) NP_001123303.1:p.Cys1931Gly
NM_001129832.2:c.5767T>G (CACNA1C) NP_001123304.1:p.Cys1923Gly
NM_001129833.2:c.5764T>G (CACNA1C) NP_001123305.1:p.Cys1922Gly
NM_001129834.2:c.5764T>G (CACNA1C) NP_001123306.1:p.Cys1922Gly
NM_001129835.2:c.5764T>G (CACNA1C) NP_001123307.1:p.Cys1922Gly
NM_001129836.2:c.5758T>G (CACNA1C) NP_001123308.1:p.Cys1920Gly
NM_001129837.2:c.5731T>G (CACNA1C) NP_001123309.1:p.Cys1911Gly
NM_001129838.2:c.5731T>G (CACNA1C) NP_001123310.1:p.Cys1911Gly
NM_001129839.2:c.5725T>G (CACNA1C) NP_001123311.1:p.Cys1909Gly
NM_001129841.2:c.5707T>G (CACNA1C) NP_001123313.1:p.Cys1903Gly
NM_001129842.2:c.5707T>G (CACNA1C) NP_001123314.1:p.Cys1903Gly
NM_001129843.2:c.5707T>G (CACNA1C) NP_001123315.1:p.Cys1903Gly
NM_001129844.2:c.5698T>G (CACNA1C) NP_001123316.1:p.Cys1900Gly
NM_001129846.2:c.5674T>G (CACNA1C) NP_001123318.1:p.Cys1892Gly
NM_001167624.3:c.5812T>G (CACNA1C) NP_001161096.2:p.Cys1938Gly
NM_001167625.2:c.5887T>G (CACNA1C) NP_001161097.1:p.Cys1963Gly
NM_199460.4:c.5956T>G (CACNA1C) NP_955630.3:p.Cys1986Gly
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