Canonical Allele Identifier: CA083665

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 294708
• ClinVar RCV Id: RCV000362920 ; RCV000815102 ; RCV003454873 ; RCV003454872 ; RCV003458395
• dbSNP Id: rs146696748
• ExAC: 1:201012449 A / T
• gnomAD v2: 1-201012449-A-T
• gnomAD v3: 1-201043321-A-T
• gnomAD v4: 1-201043321-A-T
• MyVariant Identifiers: chr1:g.201012449A>T (hg19) ; chr1:g.201043321A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201043321A>T , CM000663.2:g.201043321A>T	GRCh38
NC_000001.10:g.201012449A>T , CM000663.1:g.201012449A>T	GRCh37
NC_000001.9:g.199279072A>T	NCBI36
NG_009816.1:g.74246T>A
NG_009816.2:g.74246T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.5008T>A MANE Select	ENSP00000355192.3:p.Tyr1670Asn
ENST00000679417.1:c.*4171T>A	ENSP00000506706.1:n.*4171T>A
ENST00000680051.1:n.2134T>A
ENST00000680059.1:c.*2526T>A	ENSP00000504944.1:n.*2526T>A
ENST00000681078.1:c.*783T>A	ENSP00000506645.1:n.*783T>A
ENST00000681190.1:c.*1190T>A	ENSP00000506428.1:n.*1190T>A
ENST00000681874.1:c.4948T>A	ENSP00000505162.1:p.Tyr1650Asn
ENST00000362061.3:c.5008T>A	ENSP00000355192.3:p.Tyr1670Asn
ENST00000367338.7:c.4951T>A	ENSP00000356307.3:p.Tyr1651Asn
NM_000069.2:c.5008T>A	NP_000060.2:p.Tyr1670Asn
XM_005245478.2:c.4951T>A	XP_005245535.1:p.Tyr1651Asn
XM_005245478.3:c.4951T>A	XP_005245535.1:p.Tyr1651Asn
NM_000069.3:c.5008T>A MANE Select	NP_000060.2:p.Tyr1670Asn