Canonical Allele Identifier: CA421019426

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155260429A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290638A>T , CM000663.2:g.155290638A>T	GRCh38
NC_000001.10:g.155260429A>T , CM000663.1:g.155260429A>T	GRCh37
NC_000001.9:g.153527053A>T	NCBI36
NG_011677.1:g.15797T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1659T>A MANE Select	ENSP00000339933.4:p.Ile553=
ENST00000342741.4:c.1659T>A	ENSP00000339933.4:p.Ile553=
ENST00000392414.7:c.1566T>A	ENSP00000376214.3:p.Ile522=
NM_000298.5:c.1659T>A	NP_000289.1:p.Ile553=
NM_181871.3:c.1566T>A	NP_870986.1:p.Ile522=
XM_005245266.3:c.1818T>A	XP_005245323.1:p.Ile606=
XM_006711386.2:c.1467T>A	XP_006711449.1:p.Ile489=
XM_011509640.1:c.1467T>A	XP_011507942.1:p.Ile489=
NM_000298.6:c.1659T>A MANE Select	NP_000289.1:p.Ile553=
XM_006711386.4:c.1467T>A	XP_006711449.1:p.Ile489=
XM_011509640.3:c.1467T>A	XP_011507942.1:p.Ile489=
NM_181871.4:c.1566T>A	NP_870986.1:p.Ile522=