Canonical Allele Identifier: CA1200112252

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294665A= , CM000663.2:g.155294665A=	GRCh38
NC_000001.10:g.155264456A= , CM000663.1:g.155264456A=	GRCh37
NC_000001.9:g.153531080A=	NCBI36
NG_011677.1:g.11770T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.782T= MANE Select	ENSP00000339933.4:p.Leu261=
ENST00000342741.4:c.782T=	ENSP00000339933.4:p.Leu261=
ENST00000392414.7:c.689T=	ENSP00000376214.3:p.Leu230=
NM_000298.5:c.782T=	NP_000289.1:p.Leu261=
NM_181871.3:c.689T=	NP_870986.1:p.Leu230=
XM_005245266.3:c.941T=	XP_005245323.1:p.Leu314=
XM_006711386.2:c.590T=	XP_006711449.1:p.Leu197=
XM_011509639.1:c.941T=	XP_011507941.1:p.Leu314=
XM_011509640.1:c.590T=	XP_011507942.1:p.Leu197=
NM_000298.6:c.782T= MANE Select	NP_000289.1:p.Leu261=
XM_006711386.4:c.590T=	XP_006711449.1:p.Leu197=
XM_011509640.3:c.590T=	XP_011507942.1:p.Leu197=
XM_017001493.1:c.782T=	XP_016856982.1:p.Leu261=
NM_181871.4:c.689T=	NP_870986.1:p.Leu230=