Canonical Allele Identifier: CA1144204

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294633G>C , CM000663.2:g.155294633G>C	GRCh38
NC_000001.10:g.155264424G>C , CM000663.1:g.155264424G>C	GRCh37
NC_000001.9:g.153531048G>C	NCBI36
NG_011677.1:g.11802C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000298.6:c.814C>G MANE Select	NP_000289.1:p.Leu272Val
ENST00000342741.6:c.814C>G MANE Select	ENSP00000339933.4:p.Leu272Val
NM_000298.5:c.814C>G	NP_000289.1:p.Leu272Val
NM_181871.3:c.721C>G	NP_870986.1:p.Leu241Val
NM_181871.4:c.721C>G	NP_870986.1:p.Leu241Val
ENST00000342741.4:c.814C>G	ENSP00000339933.4:p.Leu272Val
ENST00000392414.7:c.721C>G	ENSP00000376214.3:p.Leu241Val
XM_005245266.3:c.973C>G	XP_005245323.1:p.Leu325Val
XM_006711386.2:c.622C>G	XP_006711449.1:p.Leu208Val
XM_006711386.4:c.622C>G	XP_006711449.1:p.Leu208Val
XM_011509639.1:c.973C>G	XP_011507941.1:p.Leu325Val
XM_011509640.1:c.622C>G	XP_011507942.1:p.Leu208Val
XM_011509640.3:c.622C>G	XP_011507942.1:p.Leu208Val
XM_017001493.1:c.814C>G	XP_016856982.1:p.Leu272Val