Canonical Allele Identifier: CA1144212

Gene: PKLR

Linked Data

• dbSNP Id: rs761905811
• ExAC: 1:155264455 C / A
• gnomAD v2: 1-155264455-C-A
• gnomAD v4: 1-155294664-C-A
• COSMIC: COSM3979868
• MyVariant Identifiers: chr1:g.155264455C>A (hg19) ; chr1:g.155294664C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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