Canonical Allele Identifier: CA1140449887
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201078007G= , CM000663.2:g.201078007G= GRCh38
NC_000001.10:g.201047135G= , CM000663.1:g.201047135G= GRCh37
NC_000001.9:g.199313758G= NCBI36
NG_009816.1:g.39560C=
NG_009816.2:g.39560C=

Transcript Alleles

HGVS Amino-acid change
ENST00000362061.4:c.1491C= MANE Select ENSP00000355192.3:p.Asn497=
ENST00000679417.1:c.*654C= ENSP00000506706.1:n.*654C=
ENST00000680059.1:c.1491C= ENSP00000504944.1:p.Asn497=
ENST00000681078.1:c.1491C= ENSP00000506645.1:p.Asn497=
ENST00000681190.1:c.1491C= ENSP00000506428.1:p.Asn497=
ENST00000681874.1:c.1491C= ENSP00000505162.1:p.Asn497=
ENST00000362061.3:c.1491C= ENSP00000355192.3:p.Asn497=
ENST00000367338.7:c.1491C= ENSP00000356307.3:p.Asn497=
NM_000069.2:c.1491C= NP_000060.2:p.Asn497=
XM_005245478.2:c.1491C= XP_005245535.1:p.Asn497=
XM_005245478.3:c.1491C= XP_005245535.1:p.Asn497=
NM_000069.3:c.1491C= MANE Select NP_000060.2:p.Asn497=