Canonical Allele Identifier: CA078157
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201083203G>A
GRCh37 chr1:g.201052331G>A
Revel Score:
ENST00000362061 (MANE Select) 0.643
ENST00000367338 0.643
gnomAD v2:
1:201052331 G / A
gnomAD v3:
1:201083203 G / A
gnomAD v4:
chr1-201083203-G-A
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201083203G>A , CM000663.2:g.201083203G>A GRCh38
NC_000001.10:g.201052331G>A , CM000663.1:g.201052331G>A GRCh37
NC_000001.9:g.199318954G>A NCBI36
NG_009816.1:g.34364C>T
NG_009816.2:g.34364C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1352C>T MANE Select ENSP00000355192.3:p.Ser451Leu
ENST00000679417.1:c.*515C>T ENSP00000506706.1:n.*515C>T
ENST00000680059.1:c.1352C>T ENSP00000504944.1:p.Ser451Leu
ENST00000681078.1:c.1352C>T ENSP00000506645.1:p.Ser451Leu
ENST00000681190.1:c.1352C>T ENSP00000506428.1:p.Ser451Leu
ENST00000681874.1:c.1352C>T ENSP00000505162.1:p.Ser451Leu
ENST00000362061.3:c.1352C>T ENSP00000355192.3:p.Ser451Leu
ENST00000367338.7:c.1352C>T ENSP00000356307.3:p.Ser451Leu
NM_000069.2:c.1352C>T NP_000060.2:p.Ser451Leu
XM_005245478.2:c.1352C>T XP_005245535.1:p.Ser451Leu
XM_005245478.3:c.1352C>T XP_005245535.1:p.Ser451Leu
NM_000069.3:c.1352C>T MANE Select NP_000060.2:p.Ser451Leu
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