Canonical Allele Identifier: CA342754578

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264483A>G (hg19) ; chr1:g.155294692A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294692A>G , CM000663.2:g.155294692A>G	GRCh38
NC_000001.10:g.155264483A>G , CM000663.1:g.155264483A>G	GRCh37
NC_000001.9:g.153531107A>G	NCBI36
NG_011677.1:g.11743T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.755T>C MANE Select	ENSP00000339933.4:p.Val252Ala
ENST00000342741.4:c.755T>C	ENSP00000339933.4:p.Val252Ala
ENST00000392414.7:c.662T>C	ENSP00000376214.3:p.Val221Ala
NM_000298.5:c.755T>C	NP_000289.1:p.Val252Ala
NM_181871.3:c.662T>C	NP_870986.1:p.Val221Ala
XM_005245266.3:c.914T>C	XP_005245323.1:p.Val305Ala
XM_006711386.2:c.563T>C	XP_006711449.1:p.Val188Ala
XM_011509639.1:c.914T>C	XP_011507941.1:p.Val305Ala
XM_011509640.1:c.563T>C	XP_011507942.1:p.Val188Ala
NM_000298.6:c.755T>C MANE Select	NP_000289.1:p.Val252Ala
XM_006711386.4:c.563T>C	XP_006711449.1:p.Val188Ala
XM_011509640.3:c.563T>C	XP_011507942.1:p.Val188Ala
XM_017001493.1:c.755T>C	XP_016856982.1:p.Val252Ala
NM_181871.4:c.662T>C	NP_870986.1:p.Val221Ala