Canonical Allele Identifier: CA342754631

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264496T>A (hg19) ; chr1:g.155294705T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294705T>A , CM000663.2:g.155294705T>A	GRCh38
NC_000001.10:g.155264496T>A , CM000663.1:g.155264496T>A	GRCh37
NC_000001.9:g.153531120T>A	NCBI36
NG_011677.1:g.11730A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.742A>T MANE Select	ENSP00000339933.4:p.Ser248Cys
ENST00000342741.4:c.742A>T	ENSP00000339933.4:p.Ser248Cys
ENST00000392414.7:c.649A>T	ENSP00000376214.3:p.Ser217Cys
NM_000298.5:c.742A>T	NP_000289.1:p.Ser248Cys
NM_181871.3:c.649A>T	NP_870986.1:p.Ser217Cys
XM_005245266.3:c.901A>T	XP_005245323.1:p.Ser301Cys
XM_006711386.2:c.550A>T	XP_006711449.1:p.Ser184Cys
XM_011509639.1:c.901A>T	XP_011507941.1:p.Ser301Cys
XM_011509640.1:c.550A>T	XP_011507942.1:p.Ser184Cys
NM_000298.6:c.742A>T MANE Select	NP_000289.1:p.Ser248Cys
XM_006711386.4:c.550A>T	XP_006711449.1:p.Ser184Cys
XM_011509640.3:c.550A>T	XP_011507942.1:p.Ser184Cys
XM_017001493.1:c.742A>T	XP_016856982.1:p.Ser248Cys
NM_181871.4:c.649A>T	NP_870986.1:p.Ser217Cys