Canonical Allele Identifier: CA083565

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201044365G>T , CM000663.2:g.201044365G>T	GRCh38
NC_000001.10:g.201013493G>T , CM000663.1:g.201013493G>T	GRCh37
NC_000001.9:g.199280116G>T	NCBI36
NG_009816.1:g.73202C>A
NG_009816.2:g.73202C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4760C>A MANE Select	NP_000060.2:p.Ala1587Asp
ENST00000362061.4:c.4760C>A MANE Select	ENSP00000355192.3:p.Ala1587Asp
NM_000069.2:c.4760C>A	NP_000060.2:p.Ala1587Asp
ENST00000362061.3:c.4760C>A	ENSP00000355192.3:p.Ala1587Asp
ENST00000367338.7:c.4703C>A	ENSP00000356307.3:p.Ala1568Asp
ENST00000679417.1:c.*3923C>A	ENSP00000506706.1:n.*3923C>A
ENST00000680051.1:n.1886C>A
ENST00000680059.1:c.*2278C>A	ENSP00000504944.1:n.*2278C>A
ENST00000681078.1:c.*535C>A	ENSP00000506645.1:n.*535C>A
ENST00000681190.1:c.*942C>A	ENSP00000506428.1:n.*942C>A
ENST00000681874.1:c.4700C>A	ENSP00000505162.1:p.Ala1567Asp
XM_005245478.2:c.4703C>A	XP_005245535.1:p.Ala1568Asp
XM_005245478.3:c.4703C>A	XP_005245535.1:p.Ala1568Asp