Canonical Allele Identifier: CA342754546

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264477A>C (hg19) ; chr1:g.155294686A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294686A>C , CM000663.2:g.155294686A>C	GRCh38
NC_000001.10:g.155264477A>C , CM000663.1:g.155264477A>C	GRCh37
NC_000001.9:g.153531101A>C	NCBI36
NG_011677.1:g.11749T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.761T>G MANE Select	ENSP00000339933.4:p.Leu254Trp
ENST00000342741.4:c.761T>G	ENSP00000339933.4:p.Leu254Trp
ENST00000392414.7:c.668T>G	ENSP00000376214.3:p.Leu223Trp
NM_000298.5:c.761T>G	NP_000289.1:p.Leu254Trp
NM_181871.3:c.668T>G	NP_870986.1:p.Leu223Trp
XM_005245266.3:c.920T>G	XP_005245323.1:p.Leu307Trp
XM_006711386.2:c.569T>G	XP_006711449.1:p.Leu190Trp
XM_011509639.1:c.920T>G	XP_011507941.1:p.Leu307Trp
XM_011509640.1:c.569T>G	XP_011507942.1:p.Leu190Trp
NM_000298.6:c.761T>G MANE Select	NP_000289.1:p.Leu254Trp
XM_006711386.4:c.569T>G	XP_006711449.1:p.Leu190Trp
XM_011509640.3:c.569T>G	XP_011507942.1:p.Leu190Trp
XM_017001493.1:c.761T>G	XP_016856982.1:p.Leu254Trp
NM_181871.4:c.668T>G	NP_870986.1:p.Leu223Trp