Canonical Allele Identifier: CA078873

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201072764C>T , CM000663.2:g.201072764C>T	GRCh38
NC_000001.10:g.201041892C>T , CM000663.1:g.201041892C>T	GRCh37
NC_000001.9:g.199308515C>T	NCBI36
NG_009816.1:g.44803G>A
NG_009816.2:g.44803G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.2218G>A MANE Select	NP_000060.2:p.Asp740Asn
ENST00000362061.4:c.2218G>A MANE Select	ENSP00000355192.3:p.Asp740Asn
NM_000069.2:c.2218G>A	NP_000060.2:p.Asp740Asn
ENST00000362061.3:c.2218G>A	ENSP00000355192.3:p.Asp740Asn
ENST00000367338.7:c.2218G>A	ENSP00000356307.3:p.Asp740Asn
ENST00000679417.1:c.*1381G>A	ENSP00000506706.1:n.*1381G>A
ENST00000680059.1:c.2218G>A	ENSP00000504944.1:p.Asp740Asn
ENST00000681078.1:c.2218G>A	ENSP00000506645.1:p.Asp740Asn
ENST00000681190.1:c.2218G>A	ENSP00000506428.1:p.Asp740Asn
ENST00000681874.1:c.2218G>A	ENSP00000505162.1:p.Asp740Asn
XM_005245478.2:c.2218G>A	XP_005245535.1:p.Asp740Asn
XM_005245478.3:c.2218G>A	XP_005245535.1:p.Asp740Asn