Canonical Allele Identifier: CA115036

Gene: PKLR

Linked Data

• ClinVar Variation Id: 1512
• ClinVar RCV Id: RCV000001576
• dbSNP Id: rs118204087
• gnomAD v4: 1-155300271-C-T
• MyVariant Identifiers: chr1:g.155270062C>T (hg19) ; chr1:g.155300271C>T (hg38)
• PubMed: PMID:4160306 ; PMID:9090535

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155300271C>T , CM000663.2:g.155300271C>T	GRCh38
NC_000001.10:g.155270062C>T , CM000663.1:g.155270062C>T	GRCh37
NC_000001.9:g.153536686C>T	NCBI36
NG_011677.1:g.6164G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.110G>A MANE Select	ENSP00000339933.4:p.Gly37Glu
ENST00000434082.3:c.-21-62G>A	ENSP00000398037.3:n.-21-62G>A
ENST00000342741.4:c.110G>A	ENSP00000339933.4:p.Gly37Glu
ENST00000392414.7:c.17G>A	ENSP00000376214.3:p.Gly6Glu
ENST00000434082.2:c.77-62G>A	ENSP00000398037.2:n.77-62G>A
NM_000298.5:c.110G>A	NP_000289.1:p.Gly37Glu
NM_181871.3:c.17G>A	NP_870986.1:p.Gly6Glu
XM_005245266.3:c.269G>A	XP_005245323.1:p.Gly90Glu
XM_006711386.2:c.-21-62G>A	XP_006711449.1:n.-21-62G>A
XM_011509639.1:c.269G>A	XP_011507941.1:p.Gly90Glu
XM_011509640.1:c.-83G>A	XP_011507942.1:n.-83G>A
NM_000298.6:c.110G>A MANE Select	NP_000289.1:p.Gly37Glu
XM_006711386.4:c.-21-62G>A	XP_006711449.1:n.-21-62G>A
XM_011509640.3:c.-83G>A	XP_011507942.1:n.-83G>A
XM_017001493.1:c.110G>A	XP_016856982.1:p.Gly37Glu
NM_181871.4:c.17G>A	NP_870986.1:p.Gly6Glu