Canonical Allele Identifier: CA344154093

Gene: CACNA1S

Linked Data

• MyVariant Identifiers: chr1:g.201022592A>C (hg19) ; chr1:g.201053464A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201053464A>C , CM000663.2:g.201053464A>C	GRCh38
NC_000001.10:g.201022592A>C , CM000663.1:g.201022592A>C	GRCh37
NC_000001.9:g.199289215A>C	NCBI36
NG_009816.1:g.64103T>G
NG_009816.2:g.64103T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.3790T>G MANE Select	ENSP00000355192.3:p.Phe1264Val
ENST00000679417.1:c.*2953T>G	ENSP00000506706.1:n.*2953T>G
ENST00000680051.1:n.916T>G
ENST00000680059.1:c.*1308T>G	ENSP00000504944.1:n.*1308T>G
ENST00000681078.1:c.3790T>G	ENSP00000506645.1:p.Phe1264Val
ENST00000681190.1:c.3790T>G	ENSP00000506428.1:p.Phe1264Val
ENST00000681874.1:c.3730T>G	ENSP00000505162.1:p.Phe1244Val
ENST00000362061.3:c.3790T>G	ENSP00000355192.3:p.Phe1264Val
ENST00000367338.7:c.3733T>G	ENSP00000356307.3:p.Phe1245Val
NM_000069.2:c.3790T>G	NP_000060.2:p.Phe1264Val
XM_005245478.2:c.3733T>G	XP_005245535.1:p.Phe1245Val
XM_005245478.3:c.3733T>G	XP_005245535.1:p.Phe1245Val
NM_000069.3:c.3790T>G MANE Select	NP_000060.2:p.Phe1264Val