Canonical Allele Identifier: CA342754448

Gene: PKLR

Linked Data

• gnomAD v4: 1-155294664-C-G
• MyVariant Identifiers: chr1:g.155264455C>G (hg19) ; chr1:g.155294664C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294664C>G , CM000663.2:g.155294664C>G	GRCh38
NC_000001.10:g.155264455C>G , CM000663.1:g.155264455C>G	GRCh37
NC_000001.9:g.153531079C>G	NCBI36
NG_011677.1:g.11771G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.783G>C MANE Select	ENSP00000339933.4:p.Leu261Phe
ENST00000342741.4:c.783G>C	ENSP00000339933.4:p.Leu261Phe
ENST00000392414.7:c.690G>C	ENSP00000376214.3:p.Leu230Phe
NM_000298.5:c.783G>C	NP_000289.1:p.Leu261Phe
NM_181871.3:c.690G>C	NP_870986.1:p.Leu230Phe
XM_005245266.3:c.942G>C	XP_005245323.1:p.Leu314Phe
XM_006711386.2:c.591G>C	XP_006711449.1:p.Leu197Phe
XM_011509639.1:c.942G>C	XP_011507941.1:p.Leu314Phe
XM_011509640.1:c.591G>C	XP_011507942.1:p.Leu197Phe
NM_000298.6:c.783G>C MANE Select	NP_000289.1:p.Leu261Phe
XM_006711386.4:c.591G>C	XP_006711449.1:p.Leu197Phe
XM_011509640.3:c.591G>C	XP_011507942.1:p.Leu197Phe
XM_017001493.1:c.783G>C	XP_016856982.1:p.Leu261Phe
NM_181871.4:c.690G>C	NP_870986.1:p.Leu230Phe