Canonical Allele Identifier: CA342753644

Gene: PKLR

Linked Data

• COSMIC: COSM3862913
• MyVariant Identifiers: chr1:g.155264273C>T (hg19) ; chr1:g.155294482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294482C>T , CM000663.2:g.155294482C>T	GRCh38
NC_000001.10:g.155264273C>T , CM000663.1:g.155264273C>T	GRCh37
NC_000001.9:g.153530897C>T	NCBI36
NG_011677.1:g.11953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.965G>A MANE Select	ENSP00000339933.4:p.Arg322Lys
ENST00000342741.4:c.965G>A	ENSP00000339933.4:p.Arg322Lys
ENST00000392414.7:c.872G>A	ENSP00000376214.3:p.Arg291Lys
NM_000298.5:c.965G>A	NP_000289.1:p.Arg322Lys
NM_181871.3:c.872G>A	NP_870986.1:p.Arg291Lys
XM_005245266.3:c.1124G>A	XP_005245323.1:p.Arg375Lys
XM_006711386.2:c.773G>A	XP_006711449.1:p.Arg258Lys
XM_011509639.1:c.1124G>A	XP_011507941.1:p.Arg375Lys
XM_011509640.1:c.773G>A	XP_011507942.1:p.Arg258Lys
NM_000298.6:c.965G>A MANE Select	NP_000289.1:p.Arg322Lys
XM_006711386.4:c.773G>A	XP_006711449.1:p.Arg258Lys
XM_011509640.3:c.773G>A	XP_011507942.1:p.Arg258Lys
XM_017001493.1:c.965G>A	XP_016856982.1:p.Arg322Lys
NM_181871.4:c.872G>A	NP_870986.1:p.Arg291Lys