Canonical Allele Identifier: CA342748163

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155260385A>T (hg19) ; chr1:g.155290594A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290594A>T , CM000663.2:g.155290594A>T	GRCh38
NC_000001.10:g.155260385A>T , CM000663.1:g.155260385A>T	GRCh37
NC_000001.9:g.153527009A>T	NCBI36
NG_011677.1:g.15841T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1703T>A MANE Select	ENSP00000339933.4:p.Met568Lys
ENST00000342741.4:c.1703T>A	ENSP00000339933.4:p.Met568Lys
ENST00000392414.7:c.1610T>A	ENSP00000376214.3:p.Met537Lys
NM_000298.5:c.1703T>A	NP_000289.1:p.Met568Lys
NM_181871.3:c.1610T>A	NP_870986.1:p.Met537Lys
XM_005245266.3:c.1862T>A	XP_005245323.1:p.Met621Lys
XM_006711386.2:c.1511T>A	XP_006711449.1:p.Met504Lys
XM_011509640.1:c.1511T>A	XP_011507942.1:p.Met504Lys
NM_000298.6:c.1703T>A MANE Select	NP_000289.1:p.Met568Lys
XM_006711386.4:c.1511T>A	XP_006711449.1:p.Met504Lys
XM_011509640.3:c.1511T>A	XP_011507942.1:p.Met504Lys
NM_181871.4:c.1610T>A	NP_870986.1:p.Met537Lys