Canonical Allele Identifier: CA1219577550
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201058265G= , CM000663.2:g.201058265G= GRCh38
NC_000001.10:g.201027393G= , CM000663.1:g.201027393G= GRCh37
NC_000001.9:g.199294016G= NCBI36
NG_009816.1:g.59302C=
NG_009816.2:g.59302C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.3609+143C= MANE Select ENSP00000355192.3:n.3609+143C=
ENST00000679417.1:c.*2772+143C= ENSP00000506706.1:n.*2772+143C=
ENST00000680051.1:n.735+143C=
ENST00000680059.1:c.*1127+143C= ENSP00000504944.1:n.*1127+143C=
ENST00000681078.1:c.3609+143C= ENSP00000506645.1:n.3609+143C=
ENST00000681190.1:c.3609+143C= ENSP00000506428.1:n.3609+143C=
ENST00000681874.1:c.3549+143C= ENSP00000505162.1:n.3549+143C=
ENST00000362061.3:c.3609+143C= ENSP00000355192.3:n.3609+143C=
ENST00000367338.7:c.3609+143C= ENSP00000356307.3:n.3609+143C=
NM_000069.2:c.3609+143C= NP_000060.2:n.3609+143C=
XM_005245478.2:c.3609+143C= XP_005245535.1:n.3609+143C=
XM_005245478.3:c.3609+143C= XP_005245535.1:n.3609+143C=
NM_000069.3:c.3609+143C= MANE Select NP_000060.2:n.3609+143C=