Canonical Allele Identifier: CA344157628

Gene: CACNA1S

Linked Data

• MyVariant Identifiers: chr1:g.201027588T>G (hg19) ; chr1:g.201058460T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058460T>G , CM000663.2:g.201058460T>G	GRCh38
NC_000001.10:g.201027588T>G , CM000663.1:g.201027588T>G	GRCh37
NC_000001.9:g.199294211T>G	NCBI36
NG_009816.1:g.59107A>C
NG_009816.2:g.59107A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3557A>C MANE Select	ENSP00000355192.3:p.Asp1186Ala
ENST00000679417.1:c.*2720A>C	ENSP00000506706.1:n.*2720A>C
ENST00000680051.1:n.683A>C
ENST00000680059.1:c.*1075A>C	ENSP00000504944.1:n.*1075A>C
ENST00000681078.1:c.3557A>C	ENSP00000506645.1:p.Asp1186Ala
ENST00000681190.1:c.3557A>C	ENSP00000506428.1:p.Asp1186Ala
ENST00000681874.1:c.3497A>C	ENSP00000505162.1:p.Asp1166Ala
ENST00000362061.3:c.3557A>C	ENSP00000355192.3:p.Asp1186Ala
ENST00000367338.7:c.3557A>C	ENSP00000356307.3:p.Asp1186Ala
NM_000069.2:c.3557A>C	NP_000060.2:p.Asp1186Ala
XM_005245478.2:c.3557A>C	XP_005245535.1:p.Asp1186Ala
XM_005245478.3:c.3557A>C	XP_005245535.1:p.Asp1186Ala
NM_000069.3:c.3557A>C MANE Select	NP_000060.2:p.Asp1186Ala