Canonical Allele Identifier: CA342753591

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264175A>C (hg19) ; chr1:g.155294384A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294384A>C , CM000663.2:g.155294384A>C	GRCh38
NC_000001.10:g.155264175A>C , CM000663.1:g.155264175A>C	GRCh37
NC_000001.9:g.153530799A>C	NCBI36
NG_011677.1:g.12051T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.967T>G MANE Select	ENSP00000339933.4:p.Phe323Val
ENST00000342741.4:c.967T>G	ENSP00000339933.4:p.Phe323Val
ENST00000392414.7:c.874T>G	ENSP00000376214.3:p.Phe292Val
NM_000298.5:c.967T>G	NP_000289.1:p.Phe323Val
NM_181871.3:c.874T>G	NP_870986.1:p.Phe292Val
XM_005245266.3:c.1126T>G	XP_005245323.1:p.Phe376Val
XM_006711386.2:c.775T>G	XP_006711449.1:p.Phe259Val
XM_011509639.1:c.1126T>G	XP_011507941.1:p.Phe376Val
XM_011509640.1:c.775T>G	XP_011507942.1:p.Phe259Val
NM_000298.6:c.967T>G MANE Select	NP_000289.1:p.Phe323Val
XM_006711386.4:c.775T>G	XP_006711449.1:p.Phe259Val
XM_011509640.3:c.775T>G	XP_011507942.1:p.Phe259Val
XM_017001493.1:c.967T>G	XP_016856982.1:p.Phe323Val
NM_181871.4:c.874T>G	NP_870986.1:p.Phe292Val