Canonical Allele Identifier: CA2832540149

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201060624C>G , CM000663.2:g.201060624C>G	GRCh38
NC_000001.10:g.201029752C>G , CM000663.1:g.201029752C>G	GRCh37
NC_000001.9:g.199296375C>G	NCBI36
NG_009816.1:g.56943G>C
NG_009816.2:g.56943G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3414+34G>C MANE Select	ENSP00000355192.3:n.3414+34G>C
ENST00000679417.1:c.*2577+34G>C	ENSP00000506706.1:n.*2577+34G>C
ENST00000680051.1:n.540+34G>C
ENST00000680059.1:c.*932+34G>C	ENSP00000504944.1:n.*932+34G>C
ENST00000681078.1:c.3414+34G>C	ENSP00000506645.1:n.3414+34G>C
ENST00000681190.1:c.3414+34G>C	ENSP00000506428.1:n.3414+34G>C
ENST00000681874.1:c.3354+34G>C	ENSP00000505162.1:n.3354+34G>C
ENST00000362061.3:c.3414+34G>C	ENSP00000355192.3:n.3414+34G>C
ENST00000367338.7:c.3414+34G>C	ENSP00000356307.3:n.3414+34G>C
NM_000069.2:c.3414+34G>C	NP_000060.2:n.3414+34G>C
XM_005245478.2:c.3414+34G>C	XP_005245535.1:n.3414+34G>C
XM_005245478.3:c.3414+34G>C	XP_005245535.1:n.3414+34G>C
NM_000069.3:c.3414+34G>C MANE Select	NP_000060.2:n.3414+34G>C