Canonical Allele Identifier: CA342754286

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264418A>T (hg19) ; chr1:g.155294627A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294627A>T , CM000663.2:g.155294627A>T	GRCh38
NC_000001.10:g.155264418A>T , CM000663.1:g.155264418A>T	GRCh37
NC_000001.9:g.153531042A>T	NCBI36
NG_011677.1:g.11808T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.820T>A MANE Select	ENSP00000339933.4:p.Phe274Ile
ENST00000342741.4:c.820T>A	ENSP00000339933.4:p.Phe274Ile
ENST00000392414.7:c.727T>A	ENSP00000376214.3:p.Phe243Ile
NM_000298.5:c.820T>A	NP_000289.1:p.Phe274Ile
NM_181871.3:c.727T>A	NP_870986.1:p.Phe243Ile
XM_005245266.3:c.979T>A	XP_005245323.1:p.Phe327Ile
XM_006711386.2:c.628T>A	XP_006711449.1:p.Phe210Ile
XM_011509639.1:c.979T>A	XP_011507941.1:p.Phe327Ile
XM_011509640.1:c.628T>A	XP_011507942.1:p.Phe210Ile
NM_000298.6:c.820T>A MANE Select	NP_000289.1:p.Phe274Ile
XM_006711386.4:c.628T>A	XP_006711449.1:p.Phe210Ile
XM_011509640.3:c.628T>A	XP_011507942.1:p.Phe210Ile
XM_017001493.1:c.820T>A	XP_016856982.1:p.Phe274Ile
NM_181871.4:c.727T>A	NP_870986.1:p.Phe243Ile