Canonical Allele Identifier: CA342751209

Gene: PKLR

Linked Data

• COSMIC: COSM225970
• MyVariant Identifiers: chr1:g.155261669G>A (hg19) ; chr1:g.155291878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291878G>A , CM000663.2:g.155291878G>A	GRCh38
NC_000001.10:g.155261669G>A , CM000663.1:g.155261669G>A	GRCh37
NC_000001.9:g.153528293G>A	NCBI36
NG_011677.1:g.14557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1496C>T MANE Select	ENSP00000339933.4:p.Ser499Phe
ENST00000342741.4:c.1496C>T	ENSP00000339933.4:p.Ser499Phe
ENST00000392414.7:c.1403C>T	ENSP00000376214.3:p.Ser468Phe
NM_000298.5:c.1496C>T	NP_000289.1:p.Ser499Phe
NM_181871.3:c.1403C>T	NP_870986.1:p.Ser468Phe
XM_005245266.3:c.1655C>T	XP_005245323.1:p.Ser552Phe
XM_006711386.2:c.1304C>T	XP_006711449.1:p.Ser435Phe
XM_011509640.1:c.1304C>T	XP_011507942.1:p.Ser435Phe
NM_000298.6:c.1496C>T MANE Select	NP_000289.1:p.Ser499Phe
XM_006711386.4:c.1304C>T	XP_006711449.1:p.Ser435Phe
XM_011509640.3:c.1304C>T	XP_011507942.1:p.Ser435Phe
NM_181871.4:c.1403C>T	NP_870986.1:p.Ser468Phe