Canonical Allele Identifier: CA400370276

Gene: MPO

Linked Data

• gnomAD v4: 17-58273581-G-A
• MyVariant Identifiers: chr17:g.56350942G>A (hg19) ; chr17:g.58273581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273581G>A , CM000679.2:g.58273581G>A	GRCh38
NC_000017.10:g.56350942G>A , CM000679.1:g.56350942G>A	GRCh37
NC_000017.9:g.53705941G>A	NCBI36
NG_009629.1:g.12355C>T , LRG_84:g.12355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.787C>T
ENST00000699291.1:c.579C>T	ENSP00000514272.1:n.579C>T
ENST00000699292.1:n.494C>T
ENST00000225275.4:c.1454C>T MANE Select	ENSP00000225275.3:p.Ser485Leu
ENST00000225275.3:c.1454C>T	ENSP00000225275.3:p.Ser485Leu
NM_000250.1:c.1454C>T , LRG_84t1:c.1454C>T	NP_000241.1:p.Ser485Leu
XM_011524821.1:c.1640C>T	XP_011523123.1:p.Ser547Leu
XM_011524822.1:c.1169C>T	XP_011523124.1:p.Ser390Leu
XM_011524823.1:c.*3C>T	XP_011523125.1:n.*3C>T
NM_000250.2:c.1454C>T MANE Select	NP_000241.1:p.Ser485Leu