Canonical Allele Identifier: CA7662385

Gene: MPI

Linked Data

• ClinVar Variation Id: 966402
• ClinVar RCV Id: RCV001241067
• dbSNP Id: rs200452019
• ExAC: 15:75183742 G / A
• gnomAD v2: 15-75183742-G-A
• gnomAD v3: 15-74891401-G-A
• gnomAD v4: 15-74891401-G-A
• MyVariant Identifiers: chr15:g.75183742G>A (hg19) ; chr15:g.74891401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74891401G>A , CM000677.2:g.74891401G>A	GRCh38
NC_000015.9:g.75183742G>A , CM000677.1:g.75183742G>A	GRCh37
NC_000015.8:g.72970795G>A	NCBI36
NG_008921.1:g.6333G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.167G>A MANE Select	ENSP00000318318.6:p.Arg56Gln
ENST00000323744.10:c.167G>A	ENSP00000318192.6:p.Arg56Gln
ENST00000352410.8:c.167G>A	ENSP00000318318.6:p.Arg56Gln
ENST00000535694.5:c.17G>A	ENSP00000440447.1:p.Arg6Gln
ENST00000561470.5:c.*63G>A	ENSP00000454267.1:n.*63G>A
ENST00000562606.5:c.107G>A	ENSP00000457020.1:p.Arg36Gln
ENST00000562800.5:c.167G>A	ENSP00000457619.1:p.Arg56Gln
ENST00000563422.5:c.167G>A	ENSP00000457885.1:p.Arg56Gln
ENST00000563786.5:c.107G>A	ENSP00000455241.1:p.Arg36Gln
ENST00000564003.5:c.17G>A	ENSP00000454312.1:p.Arg6Gln
ENST00000564633.5:c.107G>A	ENSP00000455383.1:p.Arg36Gln
ENST00000565576.5:c.167G>A	ENSP00000454619.1:p.Arg56Gln
ENST00000566377.5:c.167G>A	ENSP00000455405.1:p.Arg56Gln
ENST00000567116.5:n.198G>A
ENST00000567132.5:c.167G>A	ENSP00000455972.1:p.Arg56Gln
ENST00000567177.1:c.128G>A	ENSP00000457013.1:p.Arg43Gln
ENST00000567570.5:c.107G>A	ENSP00000455477.1:p.Arg36Gln
ENST00000568828.5:c.145-14G>A	ENSP00000455065.1:n.145-14G>A
ENST00000568840.1:n.276G>A
ENST00000568907.5:c.167G>A	ENSP00000457494.1:p.Arg56Gln
ENST00000569233.5:c.224G>A	ENSP00000454622.1:p.Arg75Gln
ENST00000569931.5:c.107G>A	ENSP00000455161.1:p.Arg36Gln
NM_001289155.1:c.167G>A	NP_001276084.1:p.Arg56Gln
NM_001289156.1:c.17G>A	NP_001276085.1:p.Arg6Gln
NM_001289157.1:c.167G>A	NP_001276086.1:p.Arg56Gln
NM_002435.2:c.167G>A	NP_002426.1:p.Arg56Gln
XM_011521592.1:c.155G>A	XP_011519894.1:p.Arg52Gln
XM_011521593.1:c.107G>A	XP_011519895.1:p.Arg36Gln
NM_001330372.1:c.107G>A	NP_001317301.1:p.Arg36Gln
XM_017022208.1:c.107G>A	XP_016877697.1:p.Arg36Gln
XM_017022209.2:c.17G>A	XP_016877698.1:p.Arg6Gln
NM_002435.3:c.167G>A MANE Select	NP_002426.1:p.Arg56Gln
NM_001289155.2:c.167G>A	NP_001276084.1:p.Arg56Gln
NM_001289156.2:c.17G>A	NP_001276085.1:p.Arg6Gln
NM_001289157.2:c.167G>A	NP_001276086.1:p.Arg56Gln
NM_001330372.2:c.107G>A	NP_001317301.1:p.Arg36Gln