Canonical Allele Identifier: CA342748616

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155260454A>C (hg19) ; chr1:g.155290663A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290663A>C , CM000663.2:g.155290663A>C	GRCh38
NC_000001.10:g.155260454A>C , CM000663.1:g.155260454A>C	GRCh37
NC_000001.9:g.153527078A>C	NCBI36
NG_011677.1:g.15772T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1634T>G MANE Select	ENSP00000339933.4:p.Phe545Cys
ENST00000342741.4:c.1634T>G	ENSP00000339933.4:p.Phe545Cys
ENST00000392414.7:c.1541T>G	ENSP00000376214.3:p.Phe514Cys
NM_000298.5:c.1634T>G	NP_000289.1:p.Phe545Cys
NM_181871.3:c.1541T>G	NP_870986.1:p.Phe514Cys
XM_005245266.3:c.1793T>G	XP_005245323.1:p.Phe598Cys
XM_006711386.2:c.1442T>G	XP_006711449.1:p.Phe481Cys
XM_011509640.1:c.1442T>G	XP_011507942.1:p.Phe481Cys
NM_000298.6:c.1634T>G MANE Select	NP_000289.1:p.Phe545Cys
XM_006711386.4:c.1442T>G	XP_006711449.1:p.Phe481Cys
XM_011509640.3:c.1442T>G	XP_011507942.1:p.Phe481Cys
NM_181871.4:c.1541T>G	NP_870986.1:p.Phe514Cys