Canonical Allele Identifier: CA1143984

Gene: PKLR

Linked Data

• dbSNP Id: rs749456521
• ExAC: 1:155261687 A / T
• gnomAD v2: 1-155261687-A-T
• gnomAD v4: 1-155291896-A-T
• MyVariant Identifiers: chr1:g.155261687A>T (hg19) ; chr1:g.155291896A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291896A>T , CM000663.2:g.155291896A>T	GRCh38
NC_000001.10:g.155261687A>T , CM000663.1:g.155261687A>T	GRCh37
NC_000001.9:g.153528311A>T	NCBI36
NG_011677.1:g.14539T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1478T>A MANE Select	ENSP00000339933.4:p.Val493Asp
ENST00000342741.4:c.1478T>A	ENSP00000339933.4:p.Val493Asp
ENST00000392414.7:c.1385T>A	ENSP00000376214.3:p.Val462Asp
NM_000298.5:c.1478T>A	NP_000289.1:p.Val493Asp
NM_181871.3:c.1385T>A	NP_870986.1:p.Val462Asp
XM_005245266.3:c.1637T>A	XP_005245323.1:p.Val546Asp
XM_006711386.2:c.1286T>A	XP_006711449.1:p.Val429Asp
XM_011509640.1:c.1286T>A	XP_011507942.1:p.Val429Asp
NM_000298.6:c.1478T>A MANE Select	NP_000289.1:p.Val493Asp
XM_006711386.4:c.1286T>A	XP_006711449.1:p.Val429Asp
XM_011509640.3:c.1286T>A	XP_011507942.1:p.Val429Asp
NM_181871.4:c.1385T>A	NP_870986.1:p.Val462Asp