Canonical Allele Identifier: CA501023117

Gene: MPO

Linked Data

• dbSNP Id: rs1382188213
• gnomAD v2: 17-56350971-G-A
• gnomAD v4: 17-58273610-G-A
• MyVariant Identifiers: chr17:g.56350971G>A (hg19) ; chr17:g.58273610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273610G>A , CM000679.2:g.58273610G>A	GRCh38
NC_000017.10:g.56350971G>A , CM000679.1:g.56350971G>A	GRCh37
NC_000017.9:g.53705970G>A	NCBI36
NG_009629.1:g.12326C>T , LRG_84:g.12326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.758C>T
ENST00000699291.1:c.550C>T	ENSP00000514272.1:p.Pro184Ser
ENST00000699292.1:n.465C>T
ENST00000225275.4:c.1425C>T MANE Select	ENSP00000225275.3:p.Tyr475=
ENST00000225275.3:c.1425C>T	ENSP00000225275.3:p.Tyr475=
NM_000250.1:c.1425C>T , LRG_84t1:c.1425C>T	NP_000241.1:p.Tyr475=
XM_011524821.1:c.1611C>T	XP_011523123.1:p.Tyr537=
XM_011524822.1:c.1140C>T	XP_011523124.1:p.Tyr380=
XM_011524823.1:c.1450C>T	XP_011523125.1:p.Pro484Ser
NM_000250.2:c.1425C>T MANE Select	NP_000241.1:p.Tyr475=