Canonical Allele Identifier: CA344137438

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201043479G>T , CM000663.2:g.201043479G>T	GRCh38
NC_000001.10:g.201012607G>T , CM000663.1:g.201012607G>T	GRCh37
NC_000001.9:g.199279230G>T	NCBI36
NG_009816.1:g.74088C>A
NG_009816.2:g.74088C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4850C>A MANE Select	NP_000060.2:p.Ser1617Tyr
ENST00000362061.4:c.4850C>A MANE Select	ENSP00000355192.3:p.Ser1617Tyr
NM_000069.2:c.4850C>A	NP_000060.2:p.Ser1617Tyr
ENST00000362061.3:c.4850C>A	ENSP00000355192.3:p.Ser1617Tyr
ENST00000367338.7:c.4793C>A	ENSP00000356307.3:p.Ser1598Tyr
ENST00000679417.1:c.*4013C>A	ENSP00000506706.1:n.*4013C>A
ENST00000680051.1:n.1976C>A
ENST00000680059.1:c.*2368C>A	ENSP00000504944.1:n.*2368C>A
ENST00000681078.1:c.*625C>A	ENSP00000506645.1:n.*625C>A
ENST00000681190.1:c.*1032C>A	ENSP00000506428.1:n.*1032C>A
ENST00000681874.1:c.4790C>A	ENSP00000505162.1:p.Ser1597Tyr
XM_005245478.2:c.4793C>A	XP_005245535.1:p.Ser1598Tyr
XM_005245478.3:c.4793C>A	XP_005245535.1:p.Ser1598Tyr