Canonical Allele Identifier: CA344154774

Gene: CACNA1S

Linked Data

• MyVariant Identifiers: chr1:g.201022669A>C (hg19) ; chr1:g.201053541A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201053541A>C , CM000663.2:g.201053541A>C	GRCh38
NC_000001.10:g.201022669A>C , CM000663.1:g.201022669A>C	GRCh37
NC_000001.9:g.199289292A>C	NCBI36
NG_009816.1:g.64026T>G
NG_009816.2:g.64026T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.3713T>G MANE Select	ENSP00000355192.3:p.Phe1238Cys
ENST00000679417.1:c.*2876T>G	ENSP00000506706.1:n.*2876T>G
ENST00000680051.1:n.839T>G
ENST00000680059.1:c.*1231T>G	ENSP00000504944.1:n.*1231T>G
ENST00000681078.1:c.3713T>G	ENSP00000506645.1:p.Phe1238Cys
ENST00000681190.1:c.3713T>G	ENSP00000506428.1:p.Phe1238Cys
ENST00000681874.1:c.3653T>G	ENSP00000505162.1:p.Phe1218Cys
ENST00000362061.3:c.3713T>G	ENSP00000355192.3:p.Phe1238Cys
ENST00000367338.7:c.3656T>G	ENSP00000356307.3:p.Phe1219Cys
NM_000069.2:c.3713T>G	NP_000060.2:p.Phe1238Cys
XM_005245478.2:c.3656T>G	XP_005245535.1:p.Phe1219Cys
XM_005245478.3:c.3656T>G	XP_005245535.1:p.Phe1219Cys
NM_000069.3:c.3713T>G MANE Select	NP_000060.2:p.Phe1238Cys