Canonical Allele Identifier: CA882718873

Gene: PPP1R13L

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45379704T>G , CM000681.2:g.45379704T>G	GRCh38
NC_000019.9:g.45882962T>G , CM000681.1:g.45882962T>G	GRCh37
NC_000019.8:g.50574802T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006663.4:c.*486A>C MANE Select	NP_006654.2:n.*486A>C
ENST00000360957.10:c.*486A>C MANE Select	ENSP00000354218.4:n.*486A>C
NM_001142502.1:c.*486A>C	NP_001135974.1:n.*486A>C
NM_001142502.2:c.*486A>C	NP_001135974.1:n.*486A>C
NM_006663.3:c.*486A>C	NP_006654.2:n.*486A>C
ENST00000360957.9:c.*486A>C	ENSP00000354218.4:n.*486A>C
ENST00000418234.6:c.*486A>C	ENSP00000403902.1:n.*486A>C
ENST00000587270.5:n.2446A>C
ENST00000589371.1:c.289A>C	ENSP00000466555.1:n.289A>C
ENST00000591986.1:c.582A>C
ENST00000612351.1:c.*486A>C	ENSP00000478646.1:n.*486A>C
XM_017026177.1:c.*486A>C	XP_016881666.1:n.*486A>C
XM_017026178.1:c.*486A>C	XP_016881667.1:n.*486A>C