Canonical Allele Identifier: CA083920

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 294777
• ClinVar RCV Id: RCV000275090 ; RCV000383532 ; RCV000704043 ; RCV002522094 ; RCV001775757
• dbSNP Id: rs527702358
• ExAC: 1:201060864 C / T
• gnomAD v2: 1-201060864-C-T
• gnomAD v3: 1-201091736-C-T
• gnomAD v4: 1-201091736-C-T
• MyVariant Identifiers: chr1:g.201060864C>T (hg19) ; chr1:g.201091736C>T (hg38)
• PubMed: PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201091736C>T , CM000663.2:g.201091736C>T	GRCh38
NC_000001.10:g.201060864C>T , CM000663.1:g.201060864C>T	GRCh37
NC_000001.9:g.199327487C>T	NCBI36
NG_009816.1:g.25831G>A
NG_009816.2:g.25831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.598G>A MANE Select	ENSP00000355192.3:p.Ala200Thr
ENST00000679417.1:c.598G>A	ENSP00000506706.1:p.Ala200Thr
ENST00000680059.1:c.598G>A	ENSP00000504944.1:p.Ala200Thr
ENST00000681078.1:c.598G>A	ENSP00000506645.1:p.Ala200Thr
ENST00000681190.1:c.598G>A	ENSP00000506428.1:p.Ala200Thr
ENST00000681874.1:c.598G>A	ENSP00000505162.1:p.Ala200Thr
ENST00000362061.3:c.598G>A	ENSP00000355192.3:p.Ala200Thr
ENST00000367338.7:c.598G>A	ENSP00000356307.3:p.Ala200Thr
NM_000069.2:c.598G>A	NP_000060.2:p.Ala200Thr
XM_005245478.2:c.598G>A	XP_005245535.1:p.Ala200Thr
XM_005245478.3:c.598G>A	XP_005245535.1:p.Ala200Thr
NM_000069.3:c.598G>A MANE Select	NP_000060.2:p.Ala200Thr