Canonical Allele Identifier: CA2481224831

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290673G= , CM000663.2:g.155290673G=	GRCh38
NC_000001.10:g.155260464G= , CM000663.1:g.155260464G=	GRCh37
NC_000001.9:g.153527088G=	NCBI36
NG_011677.1:g.15762C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1624C= MANE Select	ENSP00000339933.4:p.Leu542=
ENST00000342741.4:c.1624C=	ENSP00000339933.4:p.Leu542=
ENST00000392414.7:c.1531C=	ENSP00000376214.3:p.Leu511=
NM_000298.5:c.1624C=	NP_000289.1:p.Leu542=
NM_181871.3:c.1531C=	NP_870986.1:p.Leu511=
XM_005245266.3:c.1783C=	XP_005245323.1:p.Leu595=
XM_006711386.2:c.1432C=	XP_006711449.1:p.Leu478=
XM_011509640.1:c.1432C=	XP_011507942.1:p.Leu478=
NM_000298.6:c.1624C= MANE Select	NP_000289.1:p.Leu542=
XM_006711386.4:c.1432C=	XP_006711449.1:p.Leu478=
XM_011509640.3:c.1432C=	XP_011507942.1:p.Leu478=
NM_181871.4:c.1531C=	NP_870986.1:p.Leu511=