Canonical Allele Identifier: CA1219574072
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201050983C= , CM000663.2:g.201050983C= GRCh38
NC_000001.10:g.201020111C= , CM000663.1:g.201020111C= GRCh37
NC_000001.9:g.199286734C= NCBI36
NG_009816.1:g.66584G=
NG_009816.2:g.66584G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.4113+1G= MANE Select ENSP00000355192.3:n.4113+1G=
ENST00000679417.1:c.*3276+1G= ENSP00000506706.1:n.*3276+1G=
ENST00000680051.1:n.1239+1G=
ENST00000680059.1:c.*1631+1G= ENSP00000504944.1:n.*1631+1G=
ENST00000681078.1:c.4113+1G= ENSP00000506645.1:n.4113+1G=
ENST00000681190.1:c.*295+1G= ENSP00000506428.1:n.*295+1G=
ENST00000681874.1:c.4053+1G= ENSP00000505162.1:n.4053+1G=
ENST00000362061.3:c.4113+1G= ENSP00000355192.3:n.4113+1G=
ENST00000367338.7:c.4056+1G= ENSP00000356307.3:n.4056+1G=
NM_000069.2:c.4113+1G= NP_000060.2:n.4113+1G=
XM_005245478.2:c.4056+1G= XP_005245535.1:n.4056+1G=
XM_005245478.3:c.4056+1G= XP_005245535.1:n.4056+1G=
NM_000069.3:c.4113+1G= MANE Select NP_000060.2:n.4113+1G=