Canonical Allele Identifier: CA342748665

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155260464G>C (hg19) ; chr1:g.155290673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290673G>C , CM000663.2:g.155290673G>C	GRCh38
NC_000001.10:g.155260464G>C , CM000663.1:g.155260464G>C	GRCh37
NC_000001.9:g.153527088G>C	NCBI36
NG_011677.1:g.15762C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1624C>G MANE Select	ENSP00000339933.4:p.Leu542Val
ENST00000342741.4:c.1624C>G	ENSP00000339933.4:p.Leu542Val
ENST00000392414.7:c.1531C>G	ENSP00000376214.3:p.Leu511Val
NM_000298.5:c.1624C>G	NP_000289.1:p.Leu542Val
NM_181871.3:c.1531C>G	NP_870986.1:p.Leu511Val
XM_005245266.3:c.1783C>G	XP_005245323.1:p.Leu595Val
XM_006711386.2:c.1432C>G	XP_006711449.1:p.Leu478Val
XM_011509640.1:c.1432C>G	XP_011507942.1:p.Leu478Val
NM_000298.6:c.1624C>G MANE Select	NP_000289.1:p.Leu542Val
XM_006711386.4:c.1432C>G	XP_006711449.1:p.Leu478Val
XM_011509640.3:c.1432C>G	XP_011507942.1:p.Leu478Val
NM_181871.4:c.1531C>G	NP_870986.1:p.Leu511Val