Canonical Allele Identifier: CA342748232

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155260400C>G (hg19) ; chr1:g.155290609C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290609C>G , CM000663.2:g.155290609C>G	GRCh38
NC_000001.10:g.155260400C>G , CM000663.1:g.155260400C>G	GRCh37
NC_000001.9:g.153527024C>G	NCBI36
NG_011677.1:g.15826G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1688G>C MANE Select	ENSP00000339933.4:p.Gly563Ala
ENST00000342741.4:c.1688G>C	ENSP00000339933.4:p.Gly563Ala
ENST00000392414.7:c.1595G>C	ENSP00000376214.3:p.Gly532Ala
NM_000298.5:c.1688G>C	NP_000289.1:p.Gly563Ala
NM_181871.3:c.1595G>C	NP_870986.1:p.Gly532Ala
XM_005245266.3:c.1847G>C	XP_005245323.1:p.Gly616Ala
XM_006711386.2:c.1496G>C	XP_006711449.1:p.Gly499Ala
XM_011509640.1:c.1496G>C	XP_011507942.1:p.Gly499Ala
NM_000298.6:c.1688G>C MANE Select	NP_000289.1:p.Gly563Ala
XM_006711386.4:c.1496G>C	XP_006711449.1:p.Gly499Ala
XM_011509640.3:c.1496G>C	XP_011507942.1:p.Gly499Ala
NM_181871.4:c.1595G>C	NP_870986.1:p.Gly532Ala