Canonical Allele Identifier: CA7662548

Gene: MPI

Linked Data

• ClinVar Variation Id: 2473641
• ClinVar RCV Id: RCV003197885
• dbSNP Id: rs766010024
• ExAC: 15:75188642 G / A
• gnomAD v2: 15-75188642-G-A
• gnomAD v3: 15-74896301-G-A
• gnomAD v4: 15-74896301-G-A
• MyVariant Identifiers: chr15:g.75188642G>A (hg19) ; chr15:g.74896301G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896301G>A , CM000677.2:g.74896301G>A	GRCh38
NC_000015.9:g.75188642G>A , CM000677.1:g.75188642G>A	GRCh37
NC_000015.8:g.72975695G>A	NCBI36
NG_008921.1:g.11233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.820G>A MANE Select	ENSP00000318318.6:p.Val274Ile
ENST00000323744.10:c.637G>A	ENSP00000318192.6:p.Val213Ile
ENST00000352410.8:c.820G>A	ENSP00000318318.6:p.Val274Ile
ENST00000535694.5:c.670G>A	ENSP00000440447.1:p.Val224Ile
ENST00000562606.5:c.760G>A	ENSP00000457020.1:p.Val254Ile
ENST00000562800.5:c.256-1238G>A	ENSP00000457619.1:n.256-1238G>A
ENST00000563422.5:c.820G>A	ENSP00000457885.1:p.Val274Ile
ENST00000563786.5:c.760G>A	ENSP00000455241.1:p.Val254Ile
ENST00000564003.5:c.487G>A	ENSP00000454312.1:p.Val163Ile
ENST00000566377.5:c.820G>A	ENSP00000455405.1:p.Val274Ile
ENST00000566556.1:n.868G>A
ENST00000567177.1:c.598G>A	ENSP00000457013.1:p.Val200Ile
ENST00000569931.5:c.760G>A	ENSP00000455161.1:p.Val254Ile
NM_001289155.1:c.820G>A	NP_001276084.1:p.Val274Ile
NM_001289156.1:c.670G>A	NP_001276085.1:p.Val224Ile
NM_001289157.1:c.637G>A	NP_001276086.1:p.Val213Ile
NM_002435.2:c.820G>A	NP_002426.1:p.Val274Ile
XM_011521592.1:c.808G>A	XP_011519894.1:p.Val270Ile
XM_011521593.1:c.760G>A	XP_011519895.1:p.Val254Ile
NM_001330372.1:c.760G>A	NP_001317301.1:p.Val254Ile
XM_017022208.1:c.760G>A	XP_016877697.1:p.Val254Ile
XM_017022209.2:c.670G>A	XP_016877698.1:p.Val224Ile
NM_002435.3:c.820G>A MANE Select	NP_002426.1:p.Val274Ile
NM_001289155.2:c.820G>A	NP_001276084.1:p.Val274Ile
NM_001289156.2:c.670G>A	NP_001276085.1:p.Val224Ile
NM_001289157.2:c.637G>A	NP_001276086.1:p.Val213Ile
NM_001330372.2:c.760G>A	NP_001317301.1:p.Val254Ile