Canonical Allele Identifier: CA116381
Gene: MPO HGNC NCBI

Linked Data

ClinVar Variation Id: 3626
dbSNP Id: rs119468010

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58272835G>A , CM000679.2:g.58272835G>A GRCh38
NC_000017.10:g.56350196G>A , CM000679.1:g.56350196G>A GRCh37
NC_000017.9:g.53705195G>A NCBI36
NG_009629.1:g.13101C>T , LRG_84:g.13101C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000225275.4:c.1705C>T MANE Select ENSP00000225275.3:p.Arg569Trp
ENST00000225275.3:c.1705C>T ENSP00000225275.3:p.Arg569Trp
ENST00000577220.1:n.163C>T ENSP00000464668.1:p.Arg55Trp
NM_000250.1:c.1705C>T , LRG_84t1:c.1705C>T NP_000241.1:p.Arg569Trp
XM_011524821.1:c.1891C>T XP_011523123.1:p.Arg631Trp
XM_011524822.1:c.1420C>T XP_011523124.1:p.Arg474Trp
NM_000250.2:c.1705C>T MANE Select NP_000241.1:p.Arg569Trp