Canonical Allele Identifier: CA8670651

Gene: MPO

Linked Data

• dbSNP Id: rs747630094
• ExAC: 17:56351025 G / A
• gnomAD v2: 17-56351025-G-A
• gnomAD v4: 17-58273664-G-A
• COSMIC: COSM364423
• MyVariant Identifiers: chr17:g.56351025G>A (hg19) ; chr17:g.58273664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273664G>A , CM000679.2:g.58273664G>A	GRCh38
NC_000017.10:g.56351025G>A , CM000679.1:g.56351025G>A	GRCh37
NC_000017.9:g.53706024G>A	NCBI36
NG_009629.1:g.12272C>T , LRG_84:g.12272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.704C>T
ENST00000699291.1:c.496C>T	ENSP00000514272.1:p.His166Tyr
ENST00000699292.1:n.411C>T
ENST00000225275.4:c.1371C>T MANE Select	ENSP00000225275.3:p.Ile457=
ENST00000225275.3:c.1371C>T	ENSP00000225275.3:p.Ile457=
NM_000250.1:c.1371C>T , LRG_84t1:c.1371C>T	NP_000241.1:p.Ile457=
XM_011524821.1:c.1557C>T	XP_011523123.1:p.Ile519=
XM_011524822.1:c.1086C>T	XP_011523124.1:p.Ile362=
XM_011524823.1:c.1396C>T	XP_011523125.1:p.His466Tyr
NM_000250.2:c.1371C>T MANE Select	NP_000241.1:p.Ile457=