Canonical Allele Identifier: CA400370272
Gene: MPO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58273579C>A , CM000679.2:g.58273579C>A GRCh38
NC_000017.10:g.56350940C>A , CM000679.1:g.56350940C>A GRCh37
NC_000017.9:g.53705939C>A NCBI36
NG_009629.1:g.12357G>T , LRG_84:g.12357G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000578493.2:n.789G>T
ENST00000699291.1:c.581G>T ENSP00000514272.1:n.581G>T
ENST00000699292.1:n.496G>T
ENST00000225275.4:c.1456G>T MANE Select ENSP00000225275.3:p.Val486Leu
ENST00000225275.3:c.1456G>T ENSP00000225275.3:p.Val486Leu
NM_000250.1:c.1456G>T , LRG_84t1:c.1456G>T NP_000241.1:p.Val486Leu
XM_011524821.1:c.1642G>T XP_011523123.1:p.Val548Leu
XM_011524822.1:c.1171G>T XP_011523124.1:p.Val391Leu
XM_011524823.1:c.*5G>T XP_011523125.1:n.*5G>T
NM_000250.2:c.1456G>T MANE Select NP_000241.1:p.Val486Leu