Canonical Allele Identifier: CA083460

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201047185A>G , CM000663.2:g.201047185A>G	GRCh38
NC_000001.10:g.201016313A>G , CM000663.1:g.201016313A>G	GRCh37
NC_000001.9:g.199282936A>G	NCBI36
NG_009816.1:g.70382T>C
NG_009816.2:g.70382T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4598T>C MANE Select	NP_000060.2:p.Phe1533Ser
ENST00000362061.4:c.4598T>C MANE Select	ENSP00000355192.3:p.Phe1533Ser
NM_000069.2:c.4598T>C	NP_000060.2:p.Phe1533Ser
ENST00000362061.3:c.4598T>C	ENSP00000355192.3:p.Phe1533Ser
ENST00000367338.7:c.4541T>C	ENSP00000356307.3:p.Phe1514Ser
ENST00000679417.1:c.*3761T>C	ENSP00000506706.1:n.*3761T>C
ENST00000680051.1:n.1724T>C
ENST00000680059.1:c.*2116T>C	ENSP00000504944.1:n.*2116T>C
ENST00000681078.1:c.*373T>C	ENSP00000506645.1:n.*373T>C
ENST00000681190.1:c.*780T>C	ENSP00000506428.1:n.*780T>C
ENST00000681874.1:c.4538T>C	ENSP00000505162.1:p.Phe1513Ser
XM_005245478.2:c.4541T>C	XP_005245535.1:p.Phe1514Ser
XM_005245478.3:c.4541T>C	XP_005245535.1:p.Phe1514Ser