Canonical Allele Identifier: CA292012411

Gene: MPO

Linked Data

• dbSNP Id: rs1025578603
• gnomAD v2: 17-56351009-G-C
• gnomAD v3: 17-58273648-G-C
• gnomAD v4: 17-58273648-G-C
• MyVariant Identifiers: chr17:g.56351009G>C (hg19) ; chr17:g.58273648G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273648G>C , CM000679.2:g.58273648G>C	GRCh38
NC_000017.10:g.56351009G>C , CM000679.1:g.56351009G>C	GRCh37
NC_000017.9:g.53706008G>C	NCBI36
NG_009629.1:g.12288C>G , LRG_84:g.12288C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.720C>G
ENST00000699291.1:c.512C>G	ENSP00000514272.1:p.Pro171Arg
ENST00000699292.1:n.427C>G
ENST00000225275.4:c.1387C>G MANE Select	ENSP00000225275.3:p.Leu463Val
ENST00000225275.3:c.1387C>G	ENSP00000225275.3:p.Leu463Val
NM_000250.1:c.1387C>G , LRG_84t1:c.1387C>G	NP_000241.1:p.Leu463Val
XM_011524821.1:c.1573C>G	XP_011523123.1:p.Leu525Val
XM_011524822.1:c.1102C>G	XP_011523124.1:p.Leu368Val
XM_011524823.1:c.1412C>G	XP_011523125.1:p.Pro471Arg
NM_000250.2:c.1387C>G MANE Select	NP_000241.1:p.Leu463Val