Canonical Allele Identifier: CA342754621

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264494G>T (hg19) ; chr1:g.155294703G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294703G>T , CM000663.2:g.155294703G>T	GRCh38
NC_000001.10:g.155264494G>T , CM000663.1:g.155264494G>T	GRCh37
NC_000001.9:g.153531118G>T	NCBI36
NG_011677.1:g.11732C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.744C>A MANE Select	ENSP00000339933.4:p.Ser248Arg
ENST00000342741.4:c.744C>A	ENSP00000339933.4:p.Ser248Arg
ENST00000392414.7:c.651C>A	ENSP00000376214.3:p.Ser217Arg
NM_000298.5:c.744C>A	NP_000289.1:p.Ser248Arg
NM_181871.3:c.651C>A	NP_870986.1:p.Ser217Arg
XM_005245266.3:c.903C>A	XP_005245323.1:p.Ser301Arg
XM_006711386.2:c.552C>A	XP_006711449.1:p.Ser184Arg
XM_011509639.1:c.903C>A	XP_011507941.1:p.Ser301Arg
XM_011509640.1:c.552C>A	XP_011507942.1:p.Ser184Arg
NM_000298.6:c.744C>A MANE Select	NP_000289.1:p.Ser248Arg
XM_006711386.4:c.552C>A	XP_006711449.1:p.Ser184Arg
XM_011509640.3:c.552C>A	XP_011507942.1:p.Ser184Arg
XM_017001493.1:c.744C>A	XP_016856982.1:p.Ser248Arg
NM_181871.4:c.651C>A	NP_870986.1:p.Ser217Arg