Canonical Allele Identifier: CA082619
Gene: CACNA1S HGNC NCBI

Linked Data

ClinVar Variation Id: 3073898
ClinVar RCV Id: RCV004012440
dbSNP Id: rs144935943

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201058475G>C , CM000663.2:g.201058475G>C GRCh38
NC_000001.10:g.201027603G>C , CM000663.1:g.201027603G>C GRCh37
NC_000001.9:g.199294226G>C NCBI36
NG_009816.1:g.59092C>G
NG_009816.2:g.59092C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.3542C>G MANE Select ENSP00000355192.3:p.Pro1181Arg
ENST00000679417.1:c.*2705C>G ENSP00000506706.1:n.*2705C>G
ENST00000680051.1:n.668C>G
ENST00000680059.1:c.*1060C>G ENSP00000504944.1:n.*1060C>G
ENST00000681078.1:c.3542C>G ENSP00000506645.1:p.Pro1181Arg
ENST00000681190.1:c.3542C>G ENSP00000506428.1:p.Pro1181Arg
ENST00000681874.1:c.3482C>G ENSP00000505162.1:p.Pro1161Arg
ENST00000362061.3:c.3542C>G ENSP00000355192.3:p.Pro1181Arg
ENST00000367338.7:c.3542C>G ENSP00000356307.3:p.Pro1181Arg
NM_000069.2:c.3542C>G NP_000060.2:p.Pro1181Arg
XM_005245478.2:c.3542C>G XP_005245535.1:p.Pro1181Arg
XM_005245478.3:c.3542C>G XP_005245535.1:p.Pro1181Arg
NM_000069.3:c.3542C>G MANE Select NP_000060.2:p.Pro1181Arg