Canonical Allele Identifier: CA342754618

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264493G>C (hg19) ; chr1:g.155294702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294702G>C , CM000663.2:g.155294702G>C	GRCh38
NC_000001.10:g.155264493G>C , CM000663.1:g.155264493G>C	GRCh37
NC_000001.9:g.153531117G>C	NCBI36
NG_011677.1:g.11733C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.745C>G MANE Select	ENSP00000339933.4:p.Arg249Gly
ENST00000342741.4:c.745C>G	ENSP00000339933.4:p.Arg249Gly
ENST00000392414.7:c.652C>G	ENSP00000376214.3:p.Arg218Gly
NM_000298.5:c.745C>G	NP_000289.1:p.Arg249Gly
NM_181871.3:c.652C>G	NP_870986.1:p.Arg218Gly
XM_005245266.3:c.904C>G	XP_005245323.1:p.Arg302Gly
XM_006711386.2:c.553C>G	XP_006711449.1:p.Arg185Gly
XM_011509639.1:c.904C>G	XP_011507941.1:p.Arg302Gly
XM_011509640.1:c.553C>G	XP_011507942.1:p.Arg185Gly
NM_000298.6:c.745C>G MANE Select	NP_000289.1:p.Arg249Gly
XM_006711386.4:c.553C>G	XP_006711449.1:p.Arg185Gly
XM_011509640.3:c.553C>G	XP_011507942.1:p.Arg185Gly
XM_017001493.1:c.745C>G	XP_016856982.1:p.Arg249Gly
NM_181871.4:c.652C>G	NP_870986.1:p.Arg218Gly