Canonical Allele Identifier: CA421019391

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155260423C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290632C>G , CM000663.2:g.155290632C>G	GRCh38
NC_000001.10:g.155260423C>G , CM000663.1:g.155260423C>G	GRCh37
NC_000001.9:g.153527047C>G	NCBI36
NG_011677.1:g.15803G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1665G>C MANE Select	ENSP00000339933.4:p.Val555=
ENST00000342741.4:c.1665G>C	ENSP00000339933.4:p.Val555=
ENST00000392414.7:c.1572G>C	ENSP00000376214.3:p.Val524=
NM_000298.5:c.1665G>C	NP_000289.1:p.Val555=
NM_181871.3:c.1572G>C	NP_870986.1:p.Val524=
XM_005245266.3:c.1824G>C	XP_005245323.1:p.Val608=
XM_006711386.2:c.1473G>C	XP_006711449.1:p.Val491=
XM_011509640.1:c.1473G>C	XP_011507942.1:p.Val491=
NM_000298.6:c.1665G>C MANE Select	NP_000289.1:p.Val555=
XM_006711386.4:c.1473G>C	XP_006711449.1:p.Val491=
XM_011509640.3:c.1473G>C	XP_011507942.1:p.Val491=
NM_181871.4:c.1572G>C	NP_870986.1:p.Val524=