Canonical Allele Identifier: CA421245952

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264173A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294382A>G , CM000663.2:g.155294382A>G	GRCh38
NC_000001.10:g.155264173A>G , CM000663.1:g.155264173A>G	GRCh37
NC_000001.9:g.153530797A>G	NCBI36
NG_011677.1:g.12053T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.969T>C MANE Select	ENSP00000339933.4:p.Phe323=
ENST00000342741.4:c.969T>C	ENSP00000339933.4:p.Phe323=
ENST00000392414.7:c.876T>C	ENSP00000376214.3:p.Phe292=
NM_000298.5:c.969T>C	NP_000289.1:p.Phe323=
NM_181871.3:c.876T>C	NP_870986.1:p.Phe292=
XM_005245266.3:c.1128T>C	XP_005245323.1:p.Phe376=
XM_006711386.2:c.777T>C	XP_006711449.1:p.Phe259=
XM_011509639.1:c.1128T>C	XP_011507941.1:p.Phe376=
XM_011509640.1:c.777T>C	XP_011507942.1:p.Phe259=
NM_000298.6:c.969T>C MANE Select	NP_000289.1:p.Phe323=
XM_006711386.4:c.777T>C	XP_006711449.1:p.Phe259=
XM_011509640.3:c.777T>C	XP_011507942.1:p.Phe259=
XM_017001493.1:c.969T>C	XP_016856982.1:p.Phe323=
NM_181871.4:c.876T>C	NP_870986.1:p.Phe292=