Canonical Allele Identifier: CA342748516

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155260438G>T (hg19) ; chr1:g.155290647G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290647G>T , CM000663.2:g.155290647G>T	GRCh38
NC_000001.10:g.155260438G>T , CM000663.1:g.155260438G>T	GRCh37
NC_000001.9:g.153527062G>T	NCBI36
NG_011677.1:g.15788C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1650C>A MANE Select	ENSP00000339933.4:p.Asp550Glu
ENST00000342741.4:c.1650C>A	ENSP00000339933.4:p.Asp550Glu
ENST00000392414.7:c.1557C>A	ENSP00000376214.3:p.Asp519Glu
NM_000298.5:c.1650C>A	NP_000289.1:p.Asp550Glu
NM_181871.3:c.1557C>A	NP_870986.1:p.Asp519Glu
XM_005245266.3:c.1809C>A	XP_005245323.1:p.Asp603Glu
XM_006711386.2:c.1458C>A	XP_006711449.1:p.Asp486Glu
XM_011509640.1:c.1458C>A	XP_011507942.1:p.Asp486Glu
NM_000298.6:c.1650C>A MANE Select	NP_000289.1:p.Asp550Glu
XM_006711386.4:c.1458C>A	XP_006711449.1:p.Asp486Glu
XM_011509640.3:c.1458C>A	XP_011507942.1:p.Asp486Glu
NM_181871.4:c.1557C>A	NP_870986.1:p.Asp519Glu