Canonical Allele Identifier: CA8671048

Gene: MPO

Linked Data

• dbSNP Id: rs369544927
• ExAC: 17:56357723 C / G
• gnomAD v2: 17-56357723-C-G
• gnomAD v3: 17-58280362-C-G
• gnomAD v4: 17-58280362-C-G
• MyVariant Identifiers: chr17:g.56357723C>G (hg19) ; chr17:g.58280362C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58280362C>G , CM000679.2:g.58280362C>G	GRCh38
NC_000017.10:g.56357723C>G , CM000679.1:g.56357723C>G	GRCh37
NC_000017.9:g.53712722C>G	NCBI36
NG_009629.1:g.5574G>C , LRG_84:g.5574G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225275.4:c.248+4G>C MANE Select	ENSP00000225275.3:n.248+4G>C
ENST00000225275.3:c.248+4G>C	ENSP00000225275.3:n.248+4G>C
ENST00000580005.1:n.181G>C
NM_000250.1:c.248+4G>C , LRG_84t1:c.248+4G>C	NP_000241.1:n.248+4G>C
XM_011524821.1:c.434+4G>C	XP_011523123.1:n.434+4G>C
XM_011524822.1:c.-38+243G>C	XP_011523124.1:n.-38+243G>C
XM_011524823.1:c.434+4G>C	XP_011523125.1:n.434+4G>C
NM_000250.2:c.248+4G>C MANE Select	NP_000241.1:n.248+4G>C