Canonical Allele Identifier: CA342755435

Gene: PKLR

Linked Data

• dbSNP Id: rs1647526577
• gnomAD v4: 1-155295442-G-C
• MyVariant Identifiers: chr1:g.155265233G>C (hg19) ; chr1:g.155295442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295442G>C , CM000663.2:g.155295442G>C	GRCh38
NC_000001.10:g.155265233G>C , CM000663.1:g.155265233G>C	GRCh37
NC_000001.9:g.153531857G>C	NCBI36
NG_011677.1:g.10993C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.502C>G MANE Select	ENSP00000339933.4:p.Gln168Glu
ENST00000434082.3:c.310C>G	ENSP00000398037.3:p.Gln104Glu
ENST00000342741.4:c.502C>G	ENSP00000339933.4:p.Gln168Glu
ENST00000392414.7:c.409C>G	ENSP00000376214.3:p.Gln137Glu
ENST00000434082.2:c.407C>G	ENSP00000398037.2:n.407C>G
NM_000298.5:c.502C>G	NP_000289.1:p.Gln168Glu
NM_181871.3:c.409C>G	NP_870986.1:p.Gln137Glu
XM_005245266.3:c.661C>G	XP_005245323.1:p.Gln221Glu
XM_006711386.2:c.310C>G	XP_006711449.1:p.Gln104Glu
XM_011509639.1:c.661C>G	XP_011507941.1:p.Gln221Glu
XM_011509640.1:c.310C>G	XP_011507942.1:p.Gln104Glu
NM_000298.6:c.502C>G MANE Select	NP_000289.1:p.Gln168Glu
XM_006711386.4:c.310C>G	XP_006711449.1:p.Gln104Glu
XM_011509640.3:c.310C>G	XP_011507942.1:p.Gln104Glu
XM_017001493.1:c.502C>G	XP_016856982.1:p.Gln168Glu
NM_181871.4:c.409C>G	NP_870986.1:p.Gln137Glu