Canonical Allele Identifier: CA1144324

Gene: PKLR

Linked Data

• dbSNP Id: rs762330662
• ExAC: 1:155265229 C / T
• gnomAD v2: 1-155265229-C-T
• gnomAD v4: 1-155295438-C-T
• MyVariant Identifiers: chr1:g.155265229C>T (hg19) ; chr1:g.155295438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295438C>T , CM000663.2:g.155295438C>T	GRCh38
NC_000001.10:g.155265229C>T , CM000663.1:g.155265229C>T	GRCh37
NC_000001.9:g.153531853C>T	NCBI36
NG_011677.1:g.10997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.506G>A MANE Select	ENSP00000339933.4:p.Gly169Glu
ENST00000434082.3:c.314G>A	ENSP00000398037.3:p.Gly105Glu
ENST00000342741.4:c.506G>A	ENSP00000339933.4:p.Gly169Glu
ENST00000392414.7:c.413G>A	ENSP00000376214.3:p.Gly138Glu
ENST00000434082.2:c.411G>A	ENSP00000398037.2:n.411G>A
NM_000298.5:c.506G>A	NP_000289.1:p.Gly169Glu
NM_181871.3:c.413G>A	NP_870986.1:p.Gly138Glu
XM_005245266.3:c.665G>A	XP_005245323.1:p.Gly222Glu
XM_006711386.2:c.314G>A	XP_006711449.1:p.Gly105Glu
XM_011509639.1:c.665G>A	XP_011507941.1:p.Gly222Glu
XM_011509640.1:c.314G>A	XP_011507942.1:p.Gly105Glu
NM_000298.6:c.506G>A MANE Select	NP_000289.1:p.Gly169Glu
XM_006711386.4:c.314G>A	XP_006711449.1:p.Gly105Glu
XM_011509640.3:c.314G>A	XP_011507942.1:p.Gly105Glu
XM_017001493.1:c.506G>A	XP_016856982.1:p.Gly169Glu
NM_181871.4:c.413G>A	NP_870986.1:p.Gly138Glu