Canonical Allele Identifier: CA079461

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201062023G>C , CM000663.2:g.201062023G>C	GRCh38
NC_000001.10:g.201031151G>C , CM000663.1:g.201031151G>C	GRCh37
NC_000001.9:g.199297774G>C	NCBI36
NG_009816.1:g.55544C>G
NG_009816.2:g.55544C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.2974C>G MANE Select	NP_000060.2:p.His992Asp
ENST00000362061.4:c.2974C>G MANE Select	ENSP00000355192.3:p.His992Asp
NM_000069.2:c.2974C>G	NP_000060.2:p.His992Asp
ENST00000362061.3:c.2974C>G	ENSP00000355192.3:p.His992Asp
ENST00000367338.7:c.2974C>G	ENSP00000356307.3:p.His992Asp
ENST00000679417.1:c.*2137C>G	ENSP00000506706.1:n.*2137C>G
ENST00000680051.1:n.100C>G
ENST00000680059.1:c.*492C>G	ENSP00000504944.1:n.*492C>G
ENST00000681078.1:c.2974C>G	ENSP00000506645.1:p.His992Asp
ENST00000681190.1:c.2974C>G	ENSP00000506428.1:p.His992Asp
ENST00000681874.1:c.2914C>G	ENSP00000505162.1:p.His972Asp
XM_005245478.2:c.2974C>G	XP_005245535.1:p.His992Asp
XM_005245478.3:c.2974C>G	XP_005245535.1:p.His992Asp