Canonical Allele Identifier: CA422719240

Gene: CACNA1S

Linked Data

• MyVariant Identifiers: chr1:g.201020112C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201050984C>A , CM000663.2:g.201050984C>A	GRCh38
NC_000001.10:g.201020112C>A , CM000663.1:g.201020112C>A	GRCh37
NC_000001.9:g.199286735C>A	NCBI36
NG_009816.1:g.66583G>T
NG_009816.2:g.66583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.4113G>T MANE Select	ENSP00000355192.3:p.Leu1371=
ENST00000679417.1:c.*3276G>T	ENSP00000506706.1:n.*3276G>T
ENST00000680051.1:n.1239G>T
ENST00000680059.1:c.*1631G>T	ENSP00000504944.1:n.*1631G>T
ENST00000681078.1:c.4113G>T	ENSP00000506645.1:p.Leu1371=
ENST00000681190.1:c.*295G>T	ENSP00000506428.1:n.*295G>T
ENST00000681874.1:c.4053G>T	ENSP00000505162.1:p.Leu1351=
ENST00000362061.3:c.4113G>T	ENSP00000355192.3:p.Leu1371=
ENST00000367338.7:c.4056G>T	ENSP00000356307.3:p.Leu1352=
NM_000069.2:c.4113G>T	NP_000060.2:p.Leu1371=
XM_005245478.2:c.4056G>T	XP_005245535.1:p.Leu1352=
XM_005245478.3:c.4056G>T	XP_005245535.1:p.Leu1352=
NM_000069.3:c.4113G>T MANE Select	NP_000060.2:p.Leu1371=