Canonical Allele Identifier: CA344157431

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 2166464
• ClinVar RCV Id: RCV003080094
• gnomAD v4: 1-201058436-A-G
• MyVariant Identifiers: chr1:g.201027564A>G (hg19) ; chr1:g.201058436A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058436A>G , CM000663.2:g.201058436A>G	GRCh38
NC_000001.10:g.201027564A>G , CM000663.1:g.201027564A>G	GRCh37
NC_000001.9:g.199294187A>G	NCBI36
NG_009816.1:g.59131T>C
NG_009816.2:g.59131T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3581T>C MANE Select	ENSP00000355192.3:p.Ile1194Thr
ENST00000679417.1:c.*2744T>C	ENSP00000506706.1:n.*2744T>C
ENST00000680051.1:n.707T>C
ENST00000680059.1:c.*1099T>C	ENSP00000504944.1:n.*1099T>C
ENST00000681078.1:c.3581T>C	ENSP00000506645.1:p.Ile1194Thr
ENST00000681190.1:c.3581T>C	ENSP00000506428.1:p.Ile1194Thr
ENST00000681874.1:c.3521T>C	ENSP00000505162.1:p.Ile1174Thr
ENST00000362061.3:c.3581T>C	ENSP00000355192.3:p.Ile1194Thr
ENST00000367338.7:c.3581T>C	ENSP00000356307.3:p.Ile1194Thr
NM_000069.2:c.3581T>C	NP_000060.2:p.Ile1194Thr
XM_005245478.2:c.3581T>C	XP_005245535.1:p.Ile1194Thr
XM_005245478.3:c.3581T>C	XP_005245535.1:p.Ile1194Thr
NM_000069.3:c.3581T>C MANE Select	NP_000060.2:p.Ile1194Thr