Canonical Allele Identifier: CA083636

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201043357G>A , CM000663.2:g.201043357G>A	GRCh38
NC_000001.10:g.201012485G>A , CM000663.1:g.201012485G>A	GRCh37
NC_000001.9:g.199279108G>A	NCBI36
NG_009816.1:g.74210C>T
NG_009816.2:g.74210C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.4972C>T MANE Select	NP_000060.2:p.Arg1658Cys
ENST00000362061.4:c.4972C>T MANE Select	ENSP00000355192.3:p.Arg1658Cys
NM_000069.2:c.4972C>T	NP_000060.2:p.Arg1658Cys
ENST00000362061.3:c.4972C>T	ENSP00000355192.3:p.Arg1658Cys
ENST00000367338.7:c.4915C>T	ENSP00000356307.3:p.Arg1639Cys
ENST00000679417.1:c.*4135C>T	ENSP00000506706.1:n.*4135C>T
ENST00000680051.1:n.2098C>T
ENST00000680059.1:c.*2490C>T	ENSP00000504944.1:n.*2490C>T
ENST00000681078.1:c.*747C>T	ENSP00000506645.1:n.*747C>T
ENST00000681190.1:c.*1154C>T	ENSP00000506428.1:n.*1154C>T
ENST00000681874.1:c.4912C>T	ENSP00000505162.1:p.Arg1638Cys
XM_005245478.2:c.4915C>T	XP_005245535.1:p.Arg1639Cys
XM_005245478.3:c.4915C>T	XP_005245535.1:p.Arg1639Cys