Canonical Allele Identifier: CA400370560

Gene: MPO

Linked Data

• gnomAD v4: 17-58273666-T-G
• MyVariant Identifiers: chr17:g.56351027T>G (hg19) ; chr17:g.58273666T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273666T>G , CM000679.2:g.58273666T>G	GRCh38
NC_000017.10:g.56351027T>G , CM000679.1:g.56351027T>G	GRCh37
NC_000017.9:g.53706026T>G	NCBI36
NG_009629.1:g.12270A>C , LRG_84:g.12270A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.702A>C
ENST00000699291.1:c.494A>C	ENSP00000514272.1:p.His165Pro
ENST00000699292.1:n.409A>C
ENST00000225275.4:c.1369A>C MANE Select	ENSP00000225275.3:p.Ile457Leu
ENST00000225275.3:c.1369A>C	ENSP00000225275.3:p.Ile457Leu
NM_000250.1:c.1369A>C , LRG_84t1:c.1369A>C	NP_000241.1:p.Ile457Leu
XM_011524821.1:c.1555A>C	XP_011523123.1:p.Ile519Leu
XM_011524822.1:c.1084A>C	XP_011523124.1:p.Ile362Leu
XM_011524823.1:c.1394A>C	XP_011523125.1:p.His465Pro
NM_000250.2:c.1369A>C MANE Select	NP_000241.1:p.Ile457Leu