Canonical Allele Identifier: CA342751030

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155261641T>G (hg19) ; chr1:g.155291850T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291850T>G , CM000663.2:g.155291850T>G	GRCh38
NC_000001.10:g.155261641T>G , CM000663.1:g.155261641T>G	GRCh37
NC_000001.9:g.153528265T>G	NCBI36
NG_011677.1:g.14585A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1524A>C MANE Select	ENSP00000339933.4:p.Leu508Phe
ENST00000342741.4:c.1524A>C	ENSP00000339933.4:p.Leu508Phe
ENST00000392414.7:c.1431A>C	ENSP00000376214.3:p.Leu477Phe
NM_000298.5:c.1524A>C	NP_000289.1:p.Leu508Phe
NM_181871.3:c.1431A>C	NP_870986.1:p.Leu477Phe
XM_005245266.3:c.1683A>C	XP_005245323.1:p.Leu561Phe
XM_006711386.2:c.1332A>C	XP_006711449.1:p.Leu444Phe
XM_011509640.1:c.1332A>C	XP_011507942.1:p.Leu444Phe
NM_000298.6:c.1524A>C MANE Select	NP_000289.1:p.Leu508Phe
XM_006711386.4:c.1332A>C	XP_006711449.1:p.Leu444Phe
XM_011509640.3:c.1332A>C	XP_011507942.1:p.Leu444Phe
NM_181871.4:c.1431A>C	NP_870986.1:p.Leu477Phe