Canonical Allele Identifier: CA342750689

Gene: PKLR

Linked Data

• COSMIC: COSM236199
• MyVariant Identifiers: chr1:g.155261601C>A (hg19) ; chr1:g.155291810C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291810C>A , CM000663.2:g.155291810C>A	GRCh38
NC_000001.10:g.155261601C>A , CM000663.1:g.155261601C>A	GRCh37
NC_000001.9:g.153528225C>A	NCBI36
NG_011677.1:g.14625G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1564G>T MANE Select	ENSP00000339933.4:p.Glu522Ter
ENST00000342741.4:c.1564G>T	ENSP00000339933.4:p.Glu522Ter
ENST00000392414.7:c.1471G>T	ENSP00000376214.3:p.Glu491Ter
NM_000298.5:c.1564G>T	NP_000289.1:p.Glu522Ter
NM_181871.3:c.1471G>T	NP_870986.1:p.Glu491Ter
XM_005245266.3:c.1723G>T	XP_005245323.1:p.Glu575Ter
XM_006711386.2:c.1372G>T	XP_006711449.1:p.Glu458Ter
XM_011509640.1:c.1372G>T	XP_011507942.1:p.Glu458Ter
NM_000298.6:c.1564G>T MANE Select	NP_000289.1:p.Glu522Ter
XM_006711386.4:c.1372G>T	XP_006711449.1:p.Glu458Ter
XM_011509640.3:c.1372G>T	XP_011507942.1:p.Glu458Ter
NM_181871.4:c.1471G>T	NP_870986.1:p.Glu491Ter