Canonical Allele Identifier: CA1219577637
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201058490C= , CM000663.2:g.201058490C= GRCh38
NC_000001.10:g.201027618C= , CM000663.1:g.201027618C= GRCh37
NC_000001.9:g.199294241C= NCBI36
NG_009816.1:g.59077G=
NG_009816.2:g.59077G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.3527G= MANE Select ENSP00000355192.3:p.Gly1176=
ENST00000679417.1:c.*2690G= ENSP00000506706.1:n.*2690G=
ENST00000680051.1:n.653G=
ENST00000680059.1:c.*1045G= ENSP00000504944.1:n.*1045G=
ENST00000681078.1:c.3527G= ENSP00000506645.1:p.Gly1176=
ENST00000681190.1:c.3527G= ENSP00000506428.1:p.Gly1176=
ENST00000681874.1:c.3467G= ENSP00000505162.1:p.Gly1156=
ENST00000362061.3:c.3527G= ENSP00000355192.3:p.Gly1176=
ENST00000367338.7:c.3527G= ENSP00000356307.3:p.Gly1176=
NM_000069.2:c.3527G= NP_000060.2:p.Gly1176=
XM_005245478.2:c.3527G= XP_005245535.1:p.Gly1176=
XM_005245478.3:c.3527G= XP_005245535.1:p.Gly1176=
NM_000069.3:c.3527G= MANE Select NP_000060.2:p.Gly1176=