Canonical Allele Identifier: CA8671051

Gene: MPO

Linked Data

• dbSNP Id: rs771107623
• ExAC: 17:56357734 G / A
• gnomAD v2: 17-56357734-G-A
• gnomAD v3: 17-58280373-G-A
• gnomAD v4: 17-58280373-G-A
• MyVariant Identifiers: chr17:g.56357734G>A (hg19) ; chr17:g.58280373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58280373G>A , CM000679.2:g.58280373G>A	GRCh38
NC_000017.10:g.56357734G>A , CM000679.1:g.56357734G>A	GRCh37
NC_000017.9:g.53712733G>A	NCBI36
NG_009629.1:g.5563C>T , LRG_84:g.5563C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225275.4:c.241C>T MANE Select	ENSP00000225275.3:p.Arg81Trp
ENST00000225275.3:c.241C>T	ENSP00000225275.3:p.Arg81Trp
ENST00000580005.1:n.170C>T
NM_000250.1:c.241C>T , LRG_84t1:c.241C>T	NP_000241.1:p.Arg81Trp
XM_011524821.1:c.427C>T	XP_011523123.1:p.Arg143Trp
XM_011524822.1:c.-38+232C>T	XP_011523124.1:n.-38+232C>T
XM_011524823.1:c.427C>T	XP_011523125.1:p.Arg143Trp
NM_000250.2:c.241C>T MANE Select	NP_000241.1:p.Arg81Trp