Canonical Allele Identifier: CA344164754

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201062516T>G , CM000663.2:g.201062516T>G	GRCh38
NC_000001.10:g.201031644T>G , CM000663.1:g.201031644T>G	GRCh37
NC_000001.9:g.199298267T>G	NCBI36
NG_009816.1:g.55051A>C
NG_009816.2:g.55051A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.2854-2A>C MANE Select	NP_000060.2:n.2854-2A>C
ENST00000362061.4:c.2854-2A>C MANE Select	ENSP00000355192.3:n.2854-2A>C
NM_000069.2:c.2854-2A>C	NP_000060.2:n.2854-2A>C
ENST00000362061.3:c.2854-2A>C	ENSP00000355192.3:n.2854-2A>C
ENST00000367338.7:c.2854-2A>C	ENSP00000356307.3:n.2854-2A>C
ENST00000679417.1:c.*2017-2A>C	ENSP00000506706.1:n.*2017-2A>C
ENST00000680059.1:c.*372-2A>C	ENSP00000504944.1:n.*372-2A>C
ENST00000681078.1:c.2854-2A>C	ENSP00000506645.1:n.2854-2A>C
ENST00000681190.1:c.2854-2A>C	ENSP00000506428.1:n.2854-2A>C
ENST00000681874.1:c.2794-2A>C	ENSP00000505162.1:n.2794-2A>C
XM_005245478.2:c.2854-2A>C	XP_005245535.1:n.2854-2A>C
XM_005245478.3:c.2854-2A>C	XP_005245535.1:n.2854-2A>C