Canonical Allele Identifier: CA342754685

Gene: PKLR

Linked Data

• ClinVar Variation Id: 2855600
• ClinVar RCV Id: RCV003701483
• MyVariant Identifiers: chr1:g.155264511C>A (hg19) ; chr1:g.155294720C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294720C>A , CM000663.2:g.155294720C>A	GRCh38
NC_000001.10:g.155264511C>A , CM000663.1:g.155264511C>A	GRCh37
NC_000001.9:g.153531135C>A	NCBI36
NG_011677.1:g.11715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.727G>T MANE Select	ENSP00000339933.4:p.Gly243Cys
ENST00000342741.4:c.727G>T	ENSP00000339933.4:p.Gly243Cys
ENST00000392414.7:c.634G>T	ENSP00000376214.3:p.Gly212Cys
NM_000298.5:c.727G>T	NP_000289.1:p.Gly243Cys
NM_181871.3:c.634G>T	NP_870986.1:p.Gly212Cys
XM_005245266.3:c.886G>T	XP_005245323.1:p.Gly296Cys
XM_006711386.2:c.535G>T	XP_006711449.1:p.Gly179Cys
XM_011509639.1:c.886G>T	XP_011507941.1:p.Gly296Cys
XM_011509640.1:c.535G>T	XP_011507942.1:p.Gly179Cys
NM_000298.6:c.727G>T MANE Select	NP_000289.1:p.Gly243Cys
XM_006711386.4:c.535G>T	XP_006711449.1:p.Gly179Cys
XM_011509640.3:c.535G>T	XP_011507942.1:p.Gly179Cys
XM_017001493.1:c.727G>T	XP_016856982.1:p.Gly243Cys
NM_181871.4:c.634G>T	NP_870986.1:p.Gly212Cys