Canonical Allele Identifier: CA342754472

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264459T>G (hg19) ; chr1:g.155294668T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294668T>G , CM000663.2:g.155294668T>G	GRCh38
NC_000001.10:g.155264459T>G , CM000663.1:g.155264459T>G	GRCh37
NC_000001.9:g.153531083T>G	NCBI36
NG_011677.1:g.11767A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.779A>C MANE Select	ENSP00000339933.4:p.Asp260Ala
ENST00000342741.4:c.779A>C	ENSP00000339933.4:p.Asp260Ala
ENST00000392414.7:c.686A>C	ENSP00000376214.3:p.Asp229Ala
NM_000298.5:c.779A>C	NP_000289.1:p.Asp260Ala
NM_181871.3:c.686A>C	NP_870986.1:p.Asp229Ala
XM_005245266.3:c.938A>C	XP_005245323.1:p.Asp313Ala
XM_006711386.2:c.587A>C	XP_006711449.1:p.Asp196Ala
XM_011509639.1:c.938A>C	XP_011507941.1:p.Asp313Ala
XM_011509640.1:c.587A>C	XP_011507942.1:p.Asp196Ala
NM_000298.6:c.779A>C MANE Select	NP_000289.1:p.Asp260Ala
XM_006711386.4:c.587A>C	XP_006711449.1:p.Asp196Ala
XM_011509640.3:c.587A>C	XP_011507942.1:p.Asp196Ala
XM_017001493.1:c.779A>C	XP_016856982.1:p.Asp260Ala
NM_181871.4:c.686A>C	NP_870986.1:p.Asp229Ala