Canonical Allele Identifier: CA344121167
Gene: CACNA1S HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201077904G>T , CM000663.2:g.201077904G>T GRCh38
NC_000001.10:g.201047032G>T , CM000663.1:g.201047032G>T GRCh37
NC_000001.9:g.199313655G>T NCBI36
NG_009816.1:g.39663C>A
NG_009816.2:g.39663C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1594C>A MANE Select ENSP00000355192.3:p.Leu532Ile
ENST00000679417.1:c.*757C>A ENSP00000506706.1:n.*757C>A
ENST00000680059.1:c.1594C>A ENSP00000504944.1:p.Leu532Ile
ENST00000681078.1:c.1594C>A ENSP00000506645.1:p.Leu532Ile
ENST00000681190.1:c.1594C>A ENSP00000506428.1:p.Leu532Ile
ENST00000681874.1:c.1594C>A ENSP00000505162.1:p.Leu532Ile
ENST00000362061.3:c.1594C>A ENSP00000355192.3:p.Leu532Ile
ENST00000367338.7:c.1594C>A ENSP00000356307.3:p.Leu532Ile
NM_000069.2:c.1594C>A NP_000060.2:p.Leu532Ile
XM_005245478.2:c.1594C>A XP_005245535.1:p.Leu532Ile
XM_005245478.3:c.1594C>A XP_005245535.1:p.Leu532Ile
NM_000069.3:c.1594C>A MANE Select NP_000060.2:p.Leu532Ile