Canonical Allele Identifier: CA083530

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201044446C>T , CM000663.2:g.201044446C>T	GRCh38
NC_000001.10:g.201013574C>T , CM000663.1:g.201013574C>T	GRCh37
NC_000001.9:g.199280197C>T	NCBI36
NG_009816.1:g.73121G>A
NG_009816.2:g.73121G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4679G>A MANE Select	NP_000060.2:p.Arg1560Gln
ENST00000362061.4:c.4679G>A MANE Select	ENSP00000355192.3:p.Arg1560Gln
NM_000069.2:c.4679G>A	NP_000060.2:p.Arg1560Gln
ENST00000362061.3:c.4679G>A	ENSP00000355192.3:p.Arg1560Gln
ENST00000367338.7:c.4622G>A	ENSP00000356307.3:p.Arg1541Gln
ENST00000679417.1:c.*3842G>A	ENSP00000506706.1:n.*3842G>A
ENST00000680051.1:n.1805G>A
ENST00000680059.1:c.*2197G>A	ENSP00000504944.1:n.*2197G>A
ENST00000681078.1:c.*454G>A	ENSP00000506645.1:n.*454G>A
ENST00000681190.1:c.*861G>A	ENSP00000506428.1:n.*861G>A
ENST00000681874.1:c.4619G>A	ENSP00000505162.1:p.Arg1540Gln
XM_005245478.2:c.4622G>A	XP_005245535.1:p.Arg1541Gln
XM_005245478.3:c.4622G>A	XP_005245535.1:p.Arg1541Gln