Canonical Allele Identifier: CA400370417

Gene: MPO

Linked Data

• dbSNP Id: rs756231547
• gnomAD v4: 17-58273620-A-C
• MyVariant Identifiers: chr17:g.56350981A>C (hg19) ; chr17:g.58273620A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273620A>C , CM000679.2:g.58273620A>C	GRCh38
NC_000017.10:g.56350981A>C , CM000679.1:g.56350981A>C	GRCh37
NC_000017.9:g.53705980A>C	NCBI36
NG_009629.1:g.12316T>G , LRG_84:g.12316T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.748T>G
ENST00000699291.1:c.540T>G	ENSP00000514272.1:p.His180Gln
ENST00000699292.1:n.455T>G
ENST00000225275.4:c.1415T>G MANE Select	ENSP00000225275.3:p.Met472Arg
ENST00000225275.3:c.1415T>G	ENSP00000225275.3:p.Met472Arg
NM_000250.1:c.1415T>G , LRG_84t1:c.1415T>G	NP_000241.1:p.Met472Arg
XM_011524821.1:c.1601T>G	XP_011523123.1:p.Met534Arg
XM_011524822.1:c.1130T>G	XP_011523124.1:p.Met377Arg
XM_011524823.1:c.1440T>G	XP_011523125.1:p.His480Gln
NM_000250.2:c.1415T>G MANE Select	NP_000241.1:p.Met472Arg