Canonical Allele Identifier: CA078506

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 3069346
• ClinVar RCV Id: RCV004007890
• dbSNP Id: rs572571549
• ExAC: 1:201046216 G / A
• gnomAD v2: 1-201046216-G-A
• gnomAD v3: 1-201077088-G-A
• gnomAD v4: 1-201077088-G-A
• MyVariant Identifiers: chr1:g.201046216G>A (hg19) ; chr1:g.201077088G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077088G>A , CM000663.2:g.201077088G>A	GRCh38
NC_000001.10:g.201046216G>A , CM000663.1:g.201046216G>A	GRCh37
NC_000001.9:g.199312839G>A	NCBI36
NG_009816.1:g.40479C>T
NG_009816.2:g.40479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1659C>T MANE Select	ENSP00000355192.3:p.Leu553=
ENST00000679417.1:c.*822C>T	ENSP00000506706.1:n.*822C>T
ENST00000680059.1:c.1659C>T	ENSP00000504944.1:p.Leu553=
ENST00000681078.1:c.1659C>T	ENSP00000506645.1:p.Leu553=
ENST00000681190.1:c.1659C>T	ENSP00000506428.1:p.Leu553=
ENST00000681874.1:c.1659C>T	ENSP00000505162.1:p.Leu553=
ENST00000362061.3:c.1659C>T	ENSP00000355192.3:p.Leu553=
ENST00000367338.7:c.1659C>T	ENSP00000356307.3:p.Leu553=
NM_000069.2:c.1659C>T	NP_000060.2:p.Leu553=
XM_005245478.2:c.1659C>T	XP_005245535.1:p.Leu553=
XM_005245478.3:c.1659C>T	XP_005245535.1:p.Leu553=
NM_000069.3:c.1659C>T MANE Select	NP_000060.2:p.Leu553=