Canonical Allele Identifier: CA342756014

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155265456C>G (hg19) ; chr1:g.155295665C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295665C>G , CM000663.2:g.155295665C>G	GRCh38
NC_000001.10:g.155265456C>G , CM000663.1:g.155265456C>G	GRCh37
NC_000001.9:g.153532080C>G	NCBI36
NG_011677.1:g.10770G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.375G>C MANE Select	ENSP00000339933.4:p.Glu125Asp
ENST00000434082.3:c.183G>C	ENSP00000398037.3:p.Glu61Asp
ENST00000342741.4:c.375G>C	ENSP00000339933.4:p.Glu125Asp
ENST00000392414.7:c.282G>C	ENSP00000376214.3:p.Glu94Asp
ENST00000434082.2:c.280G>C	ENSP00000398037.2:n.280G>C
NM_000298.5:c.375G>C	NP_000289.1:p.Glu125Asp
NM_181871.3:c.282G>C	NP_870986.1:p.Glu94Asp
XM_005245266.3:c.534G>C	XP_005245323.1:p.Glu178Asp
XM_006711386.2:c.183G>C	XP_006711449.1:p.Glu61Asp
XM_011509639.1:c.534G>C	XP_011507941.1:p.Glu178Asp
XM_011509640.1:c.183G>C	XP_011507942.1:p.Glu61Asp
NM_000298.6:c.375G>C MANE Select	NP_000289.1:p.Glu125Asp
XM_006711386.4:c.183G>C	XP_006711449.1:p.Glu61Asp
XM_011509640.3:c.183G>C	XP_011507942.1:p.Glu61Asp
XM_017001493.1:c.375G>C	XP_016856982.1:p.Glu125Asp
NM_181871.4:c.282G>C	NP_870986.1:p.Glu94Asp