Canonical Allele Identifier: CA8670642

Gene: MPO

Linked Data

• dbSNP Id: rs752723615
• ExAC: 17:56350973 A / G
• gnomAD v2: 17-56350973-A-G
• gnomAD v4: 17-58273612-A-G
• MyVariant Identifiers: chr17:g.56350973A>G (hg19) ; chr17:g.58273612A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273612A>G , CM000679.2:g.58273612A>G	GRCh38
NC_000017.10:g.56350973A>G , CM000679.1:g.56350973A>G	GRCh37
NC_000017.9:g.53705972A>G	NCBI36
NG_009629.1:g.12324T>C , LRG_84:g.12324T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.756T>C
ENST00000699291.1:c.548T>C	ENSP00000514272.1:p.Val183Ala
ENST00000699292.1:n.463T>C
ENST00000225275.4:c.1423T>C MANE Select	ENSP00000225275.3:p.Tyr475His
ENST00000225275.3:c.1423T>C	ENSP00000225275.3:p.Tyr475His
NM_000250.1:c.1423T>C , LRG_84t1:c.1423T>C	NP_000241.1:p.Tyr475His
XM_011524821.1:c.1609T>C	XP_011523123.1:p.Tyr537His
XM_011524822.1:c.1138T>C	XP_011523124.1:p.Tyr380His
XM_011524823.1:c.1448T>C	XP_011523125.1:p.Val483Ala
NM_000250.2:c.1423T>C MANE Select	NP_000241.1:p.Tyr475His