Canonical Allele Identifier: CA344101261

Gene: CACNA1S

Linked Data

• MyVariant Identifiers: chr1:g.201034984G>C (hg19) ; chr1:g.201065856G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201065856G>C , CM000663.2:g.201065856G>C	GRCh38
NC_000001.10:g.201034984G>C , CM000663.1:g.201034984G>C	GRCh37
NC_000001.9:g.199301607G>C	NCBI36
NG_009816.1:g.51711C>G
NG_009816.2:g.51711C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.2835C>G MANE Select	ENSP00000355192.3:p.Ile945Met
ENST00000679417.1:c.*1998C>G	ENSP00000506706.1:n.*1998C>G
ENST00000680059.1:c.*353C>G	ENSP00000504944.1:n.*353C>G
ENST00000681078.1:c.2835C>G	ENSP00000506645.1:p.Ile945Met
ENST00000681190.1:c.2835C>G	ENSP00000506428.1:p.Ile945Met
ENST00000681874.1:c.2775C>G	ENSP00000505162.1:p.Ile925Met
ENST00000362061.3:c.2835C>G	ENSP00000355192.3:p.Ile945Met
ENST00000367338.7:c.2835C>G	ENSP00000356307.3:p.Ile945Met
NM_000069.2:c.2835C>G	NP_000060.2:p.Ile945Met
XM_005245478.2:c.2835C>G	XP_005245535.1:p.Ile945Met
XM_005245478.3:c.2835C>G	XP_005245535.1:p.Ile945Met
NM_000069.3:c.2835C>G MANE Select	NP_000060.2:p.Ile945Met