Canonical Allele Identifier: CA342750757

Gene: PKLR

Linked Data

• ClinVar Variation Id: 3213879
• ClinVar RCV Id: RCV004509162
• gnomAD v4: 1-155291819-C-T
• MyVariant Identifiers: chr1:g.155261610C>T (hg19) ; chr1:g.155291819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291819C>T , CM000663.2:g.155291819C>T	GRCh38
NC_000001.10:g.155261610C>T , CM000663.1:g.155261610C>T	GRCh37
NC_000001.9:g.153528234C>T	NCBI36
NG_011677.1:g.14616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1555G>A MANE Select	ENSP00000339933.4:p.Glu519Lys
ENST00000342741.4:c.1555G>A	ENSP00000339933.4:p.Glu519Lys
ENST00000392414.7:c.1462G>A	ENSP00000376214.3:p.Glu488Lys
NM_000298.5:c.1555G>A	NP_000289.1:p.Glu519Lys
NM_181871.3:c.1462G>A	NP_870986.1:p.Glu488Lys
XM_005245266.3:c.1714G>A	XP_005245323.1:p.Glu572Lys
XM_006711386.2:c.1363G>A	XP_006711449.1:p.Glu455Lys
XM_011509640.1:c.1363G>A	XP_011507942.1:p.Glu455Lys
NM_000298.6:c.1555G>A MANE Select	NP_000289.1:p.Glu519Lys
XM_006711386.4:c.1363G>A	XP_006711449.1:p.Glu455Lys
XM_011509640.3:c.1363G>A	XP_011507942.1:p.Glu455Lys
NM_181871.4:c.1462G>A	NP_870986.1:p.Glu488Lys