Canonical Allele Identifier: CA7662539

Gene: MPI

Linked Data

• dbSNP Id: rs543652740
• ExAC: 15:75188576 T / A
• gnomAD v2: 15-75188576-T-A
• gnomAD v4: 15-74896235-T-A
• MyVariant Identifiers: chr15:g.75188576T>A (hg19) ; chr15:g.74896235T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896235T>A , CM000677.2:g.74896235T>A	GRCh38
NC_000015.9:g.75188576T>A , CM000677.1:g.75188576T>A	GRCh37
NC_000015.8:g.72975629T>A	NCBI36
NG_008921.1:g.11167T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.754T>A MANE Select	ENSP00000318318.6:p.Phe252Ile
ENST00000323744.10:c.571T>A	ENSP00000318192.6:p.Phe191Ile
ENST00000352410.8:c.754T>A	ENSP00000318318.6:p.Phe252Ile
ENST00000535694.5:c.604T>A	ENSP00000440447.1:p.Phe202Ile
ENST00000562606.5:c.694T>A	ENSP00000457020.1:p.Phe232Ile
ENST00000562800.5:c.256-1304T>A	ENSP00000457619.1:n.256-1304T>A
ENST00000563422.5:c.754T>A	ENSP00000457885.1:p.Phe252Ile
ENST00000563786.5:c.694T>A	ENSP00000455241.1:p.Phe232Ile
ENST00000564003.5:c.421T>A	ENSP00000454312.1:p.Phe141Ile
ENST00000566377.5:c.754T>A	ENSP00000455405.1:p.Phe252Ile
ENST00000566556.1:n.802T>A
ENST00000567177.1:c.532T>A	ENSP00000457013.1:p.Phe178Ile
ENST00000569931.5:c.694T>A	ENSP00000455161.1:p.Phe232Ile
NM_001289155.1:c.754T>A	NP_001276084.1:p.Phe252Ile
NM_001289156.1:c.604T>A	NP_001276085.1:p.Phe202Ile
NM_001289157.1:c.571T>A	NP_001276086.1:p.Phe191Ile
NM_002435.2:c.754T>A	NP_002426.1:p.Phe252Ile
XM_011521592.1:c.742T>A	XP_011519894.1:p.Phe248Ile
XM_011521593.1:c.694T>A	XP_011519895.1:p.Phe232Ile
NM_001330372.1:c.694T>A	NP_001317301.1:p.Phe232Ile
XM_017022208.1:c.694T>A	XP_016877697.1:p.Phe232Ile
XM_017022209.2:c.604T>A	XP_016877698.1:p.Phe202Ile
NM_002435.3:c.754T>A MANE Select	NP_002426.1:p.Phe252Ile
NM_001289155.2:c.754T>A	NP_001276084.1:p.Phe252Ile
NM_001289156.2:c.604T>A	NP_001276085.1:p.Phe202Ile
NM_001289157.2:c.571T>A	NP_001276086.1:p.Phe191Ile
NM_001330372.2:c.694T>A	NP_001317301.1:p.Phe232Ile