Canonical Allele Identifier: CA342754598

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264488C>G (hg19) ; chr1:g.155294697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294697C>G , CM000663.2:g.155294697C>G	GRCh38
NC_000001.10:g.155264488C>G , CM000663.1:g.155264488C>G	GRCh37
NC_000001.9:g.153531112C>G	NCBI36
NG_011677.1:g.11738G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.750G>C MANE Select	ENSP00000339933.4:p.Lys250Asn
ENST00000342741.4:c.750G>C	ENSP00000339933.4:p.Lys250Asn
ENST00000392414.7:c.657G>C	ENSP00000376214.3:p.Lys219Asn
NM_000298.5:c.750G>C	NP_000289.1:p.Lys250Asn
NM_181871.3:c.657G>C	NP_870986.1:p.Lys219Asn
XM_005245266.3:c.909G>C	XP_005245323.1:p.Lys303Asn
XM_006711386.2:c.558G>C	XP_006711449.1:p.Lys186Asn
XM_011509639.1:c.909G>C	XP_011507941.1:p.Lys303Asn
XM_011509640.1:c.558G>C	XP_011507942.1:p.Lys186Asn
NM_000298.6:c.750G>C MANE Select	NP_000289.1:p.Lys250Asn
XM_006711386.4:c.558G>C	XP_006711449.1:p.Lys186Asn
XM_011509640.3:c.558G>C	XP_011507942.1:p.Lys186Asn
XM_017001493.1:c.750G>C	XP_016856982.1:p.Lys250Asn
NM_181871.4:c.657G>C	NP_870986.1:p.Lys219Asn