Canonical Allele Identifier: CA8670636

Gene: MPO

Linked Data

• dbSNP Id: rs773322495
• ExAC: 17:56350952 A / G
• gnomAD v2: 17-56350952-A-G
• MyVariant Identifiers: chr17:g.56350952A>G (hg19) ; chr17:g.58273591A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273591A>G , CM000679.2:g.58273591A>G	GRCh38
NC_000017.10:g.56350952A>G , CM000679.1:g.56350952A>G	GRCh37
NC_000017.9:g.53705951A>G	NCBI36
NG_009629.1:g.12345T>C , LRG_84:g.12345T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.777T>C
ENST00000699291.1:c.569T>C	ENSP00000514272.1:p.Leu190Pro
ENST00000699292.1:n.484T>C
ENST00000225275.4:c.1444T>C MANE Select	ENSP00000225275.3:p.Tyr482His
ENST00000225275.3:c.1444T>C	ENSP00000225275.3:p.Tyr482His
NM_000250.1:c.1444T>C , LRG_84t1:c.1444T>C	NP_000241.1:p.Tyr482His
XM_011524821.1:c.1630T>C	XP_011523123.1:p.Tyr544His
XM_011524822.1:c.1159T>C	XP_011523124.1:p.Tyr387His
XM_011524823.1:c.1469T>C	XP_011523125.1:p.Leu490Pro
NM_000250.2:c.1444T>C MANE Select	NP_000241.1:p.Tyr482His