Canonical Allele Identifier: CA342751289

Gene: PKLR

Linked Data

• dbSNP Id: rs1461630879
• gnomAD v4: 1-155291899-G-T
• MyVariant Identifiers: chr1:g.155261690G>T (hg19) ; chr1:g.155291899G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291899G>T , CM000663.2:g.155291899G>T	GRCh38
NC_000001.10:g.155261690G>T , CM000663.1:g.155261690G>T	GRCh37
NC_000001.9:g.153528314G>T	NCBI36
NG_011677.1:g.14536C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1475C>A MANE Select	ENSP00000339933.4:p.Ala492Glu
ENST00000342741.4:c.1475C>A	ENSP00000339933.4:p.Ala492Glu
ENST00000392414.7:c.1382C>A	ENSP00000376214.3:p.Ala461Glu
NM_000298.5:c.1475C>A	NP_000289.1:p.Ala492Glu
NM_181871.3:c.1382C>A	NP_870986.1:p.Ala461Glu
XM_005245266.3:c.1634C>A	XP_005245323.1:p.Ala545Glu
XM_006711386.2:c.1283C>A	XP_006711449.1:p.Ala428Glu
XM_011509640.1:c.1283C>A	XP_011507942.1:p.Ala428Glu
NM_000298.6:c.1475C>A MANE Select	NP_000289.1:p.Ala492Glu
XM_006711386.4:c.1283C>A	XP_006711449.1:p.Ala428Glu
XM_011509640.3:c.1283C>A	XP_011507942.1:p.Ala428Glu
NM_181871.4:c.1382C>A	NP_870986.1:p.Ala461Glu