Canonical Allele Identifier: CA292011867

Gene: MPO

Linked Data

• dbSNP Id: rs1051409286
• gnomAD v4: 17-58272860-C-G
• MyVariant Identifiers: chr17:g.56350221C>G (hg19) ; chr17:g.58272860C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58272860C>G , CM000679.2:g.58272860C>G	GRCh38
NC_000017.10:g.56350221C>G , CM000679.1:g.56350221C>G	GRCh37
NC_000017.9:g.53705220C>G	NCBI36
NG_009629.1:g.13076G>C , LRG_84:g.13076G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.1013G>C
ENST00000699291.1:c.805G>C	ENSP00000514272.1:n.805G>C
ENST00000699292.1:n.1215G>C
ENST00000225275.4:c.1680G>C MANE Select	ENSP00000225275.3:p.Gln560His
ENST00000225275.3:c.1680G>C	ENSP00000225275.3:p.Gln560His
ENST00000577220.1:c.138G>C	ENSP00000464668.1:p.Gln46His
NM_000250.1:c.1680G>C , LRG_84t1:c.1680G>C	NP_000241.1:p.Gln560His
XM_011524821.1:c.1866G>C	XP_011523123.1:p.Gln622His
XM_011524822.1:c.1395G>C	XP_011523124.1:p.Gln465His
NM_000250.2:c.1680G>C MANE Select	NP_000241.1:p.Gln560His