Canonical Allele Identifier: CA342754779

Gene: PKLR

Linked Data

• ClinVar Variation Id: 2434889
• ClinVar RCV Id: RCV003134942
• MyVariant Identifiers: chr1:g.155264522T>G (hg19) ; chr1:g.155294731T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294731T>G , CM000663.2:g.155294731T>G	GRCh38
NC_000001.10:g.155264522T>G , CM000663.1:g.155264522T>G	GRCh37
NC_000001.9:g.153531146T>G	NCBI36
NG_011677.1:g.11704A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.716A>C MANE Select	ENSP00000339933.4:p.Gln239Pro
ENST00000342741.4:c.716A>C	ENSP00000339933.4:p.Gln239Pro
ENST00000392414.7:c.623A>C	ENSP00000376214.3:p.Gln208Pro
NM_000298.5:c.716A>C	NP_000289.1:p.Gln239Pro
NM_181871.3:c.623A>C	NP_870986.1:p.Gln208Pro
XM_005245266.3:c.875A>C	XP_005245323.1:p.Gln292Pro
XM_006711386.2:c.524A>C	XP_006711449.1:p.Gln175Pro
XM_011509639.1:c.875A>C	XP_011507941.1:p.Gln292Pro
XM_011509640.1:c.524A>C	XP_011507942.1:p.Gln175Pro
NM_000298.6:c.716A>C MANE Select	NP_000289.1:p.Gln239Pro
XM_006711386.4:c.524A>C	XP_006711449.1:p.Gln175Pro
XM_011509640.3:c.524A>C	XP_011507942.1:p.Gln175Pro
XM_017001493.1:c.716A>C	XP_016856982.1:p.Gln239Pro
NM_181871.4:c.623A>C	NP_870986.1:p.Gln208Pro