Canonical Allele Identifier: CA1144222

Gene: PKLR

Linked Data

• dbSNP Id: rs368830326
• ExAC: 1:155264492 C / T
• gnomAD v2: 1-155264492-C-T
• gnomAD v4: 1-155294701-C-T
• MyVariant Identifiers: chr1:g.155264492C>T (hg19) ; chr1:g.155294701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294701C>T , CM000663.2:g.155294701C>T	GRCh38
NC_000001.10:g.155264492C>T , CM000663.1:g.155264492C>T	GRCh37
NC_000001.9:g.153531116C>T	NCBI36
NG_011677.1:g.11734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.746G>A MANE Select	ENSP00000339933.4:p.Arg249Gln
ENST00000342741.4:c.746G>A	ENSP00000339933.4:p.Arg249Gln
ENST00000392414.7:c.653G>A	ENSP00000376214.3:p.Arg218Gln
NM_000298.5:c.746G>A	NP_000289.1:p.Arg249Gln
NM_181871.3:c.653G>A	NP_870986.1:p.Arg218Gln
XM_005245266.3:c.905G>A	XP_005245323.1:p.Arg302Gln
XM_006711386.2:c.554G>A	XP_006711449.1:p.Arg185Gln
XM_011509639.1:c.905G>A	XP_011507941.1:p.Arg302Gln
XM_011509640.1:c.554G>A	XP_011507942.1:p.Arg185Gln
NM_000298.6:c.746G>A MANE Select	NP_000289.1:p.Arg249Gln
XM_006711386.4:c.554G>A	XP_006711449.1:p.Arg185Gln
XM_011509640.3:c.554G>A	XP_011507942.1:p.Arg185Gln
XM_017001493.1:c.746G>A	XP_016856982.1:p.Arg249Gln
NM_181871.4:c.653G>A	NP_870986.1:p.Arg218Gln