Canonical Allele Identifier: CA344144773

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201048621A>G , CM000663.2:g.201048621A>G	GRCh38
NC_000001.10:g.201017749A>G , CM000663.1:g.201017749A>G	GRCh37
NC_000001.9:g.199284372A>G	NCBI36
NG_009816.1:g.68946T>C
NG_009816.2:g.68946T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4402T>C MANE Select	NP_000060.2:p.Phe1468Leu
ENST00000362061.4:c.4402T>C MANE Select	ENSP00000355192.3:p.Phe1468Leu
NM_000069.2:c.4402T>C	NP_000060.2:p.Phe1468Leu
ENST00000362061.3:c.4402T>C	ENSP00000355192.3:p.Phe1468Leu
ENST00000367338.7:c.4345T>C	ENSP00000356307.3:p.Phe1449Leu
ENST00000679417.1:c.*3565T>C	ENSP00000506706.1:n.*3565T>C
ENST00000680051.1:n.1528T>C
ENST00000680059.1:c.*1920T>C	ENSP00000504944.1:n.*1920T>C
ENST00000681078.1:c.*177T>C	ENSP00000506645.1:n.*177T>C
ENST00000681190.1:c.*584T>C	ENSP00000506428.1:n.*584T>C
ENST00000681874.1:c.4342T>C	ENSP00000505162.1:p.Phe1448Leu
XM_005245478.2:c.4345T>C	XP_005245535.1:p.Phe1449Leu
XM_005245478.3:c.4345T>C	XP_005245535.1:p.Phe1449Leu