Canonical Allele Identifier: CA393175880

Gene: MPI

Linked Data

• gnomAD v4: 15-74896209-A-T
• MyVariant Identifiers: chr15:g.75188550A>T (hg19) ; chr15:g.74896209A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896209A>T , CM000677.2:g.74896209A>T	GRCh38
NC_000015.9:g.75188550A>T , CM000677.1:g.75188550A>T	GRCh37
NC_000015.8:g.72975603A>T	NCBI36
NG_008921.1:g.11141A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.728A>T MANE Select	ENSP00000318318.6:p.Gln243Leu
ENST00000323744.10:c.545A>T	ENSP00000318192.6:p.Gln182Leu
ENST00000352410.8:c.728A>T	ENSP00000318318.6:p.Gln243Leu
ENST00000535694.5:c.578A>T	ENSP00000440447.1:p.Gln193Leu
ENST00000562606.5:c.668A>T	ENSP00000457020.1:p.Gln223Leu
ENST00000562800.5:c.256-1330A>T	ENSP00000457619.1:n.256-1330A>T
ENST00000563422.5:c.728A>T	ENSP00000457885.1:p.Gln243Leu
ENST00000563786.5:c.668A>T	ENSP00000455241.1:p.Gln223Leu
ENST00000564003.5:c.395A>T	ENSP00000454312.1:p.Gln132Leu
ENST00000566377.5:c.728A>T	ENSP00000455405.1:p.Gln243Leu
ENST00000566556.1:n.776A>T
ENST00000567177.1:c.506A>T	ENSP00000457013.1:p.Gln169Leu
ENST00000569931.5:c.668A>T	ENSP00000455161.1:p.Gln223Leu
NM_001289155.1:c.728A>T	NP_001276084.1:p.Gln243Leu
NM_001289156.1:c.578A>T	NP_001276085.1:p.Gln193Leu
NM_001289157.1:c.545A>T	NP_001276086.1:p.Gln182Leu
NM_002435.2:c.728A>T	NP_002426.1:p.Gln243Leu
XM_011521592.1:c.716A>T	XP_011519894.1:p.Gln239Leu
XM_011521593.1:c.668A>T	XP_011519895.1:p.Gln223Leu
NM_001330372.1:c.668A>T	NP_001317301.1:p.Gln223Leu
XM_017022208.1:c.668A>T	XP_016877697.1:p.Gln223Leu
XM_017022209.2:c.578A>T	XP_016877698.1:p.Gln193Leu
NM_002435.3:c.728A>T MANE Select	NP_002426.1:p.Gln243Leu
NM_001289155.2:c.728A>T	NP_001276084.1:p.Gln243Leu
NM_001289156.2:c.578A>T	NP_001276085.1:p.Gln193Leu
NM_001289157.2:c.545A>T	NP_001276086.1:p.Gln182Leu
NM_001330372.2:c.668A>T	NP_001317301.1:p.Gln223Leu