Canonical Allele Identifier: CA215078

Gene: PKLR

Linked Data

• ClinVar Variation Id: 1510
• ClinVar RCV Id: RCV000001574
• dbSNP Id: rs118204085
• ExAC: 1:155262968 C / T
• gnomAD v2: 1-155262968-C-T
• gnomAD v3: 1-155293177-C-T
• gnomAD v4: 1-155293177-C-T
• COSMIC: COSM2210429
• MyVariant Identifiers: chr1:g.155262968C>T (hg19) ; chr1:g.155293177C>T (hg38)
• PubMed: PMID:8161798 ; PMID:11960989 ; PMID:14014643 ; PMID:14255553 ; PMID:18759866

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155293177C>T , CM000663.2:g.155293177C>T	GRCh38
NC_000001.10:g.155262968C>T , CM000663.1:g.155262968C>T	GRCh37
NC_000001.9:g.153529592C>T	NCBI36
NG_011677.1:g.13258G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.1436G>A MANE Select	ENSP00000339933.4:p.Arg479His
ENST00000342741.4:c.1436G>A	ENSP00000339933.4:p.Arg479His
ENST00000392414.7:c.1343G>A	ENSP00000376214.3:p.Arg448His
NM_000298.5:c.1436G>A	NP_000289.1:p.Arg479His
NM_181871.3:c.1343G>A	NP_870986.1:p.Arg448His
XM_005245266.3:c.1595G>A	XP_005245323.1:p.Arg532His
XM_006711386.2:c.1244G>A	XP_006711449.1:p.Arg415His
XM_011509640.1:c.1244G>A	XP_011507942.1:p.Arg415His
NM_000298.6:c.1436G>A MANE Select	NP_000289.1:p.Arg479His
XM_006711386.4:c.1244G>A	XP_006711449.1:p.Arg415His
XM_011509640.3:c.1244G>A	XP_011507942.1:p.Arg415His
NM_181871.4:c.1343G>A	NP_870986.1:p.Arg448His