Canonical Allele Identifier: CA421245801

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264500C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294709C>G , CM000663.2:g.155294709C>G	GRCh38
NC_000001.10:g.155264500C>G , CM000663.1:g.155264500C>G	GRCh37
NC_000001.9:g.153531124C>G	NCBI36
NG_011677.1:g.11726G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.738G>C MANE Select	ENSP00000339933.4:p.Leu246=
ENST00000342741.4:c.738G>C	ENSP00000339933.4:p.Leu246=
ENST00000392414.7:c.645G>C	ENSP00000376214.3:p.Leu215=
NM_000298.5:c.738G>C	NP_000289.1:p.Leu246=
NM_181871.3:c.645G>C	NP_870986.1:p.Leu215=
XM_005245266.3:c.897G>C	XP_005245323.1:p.Leu299=
XM_006711386.2:c.546G>C	XP_006711449.1:p.Leu182=
XM_011509639.1:c.897G>C	XP_011507941.1:p.Leu299=
XM_011509640.1:c.546G>C	XP_011507942.1:p.Leu182=
NM_000298.6:c.738G>C MANE Select	NP_000289.1:p.Leu246=
XM_006711386.4:c.546G>C	XP_006711449.1:p.Leu182=
XM_011509640.3:c.546G>C	XP_011507942.1:p.Leu182=
XM_017001493.1:c.738G>C	XP_016856982.1:p.Leu246=
NM_181871.4:c.645G>C	NP_870986.1:p.Leu215=