Canonical Allele Identifier: CA393175821

Gene: MPI

Linked Data

• dbSNP Id: rs1332769798
• gnomAD v2: 15-75188523-T-C
• gnomAD v3: 15-74896182-T-C
• gnomAD v4: 15-74896182-T-C
• MyVariant Identifiers: chr15:g.75188523T>C (hg19) ; chr15:g.74896182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896182T>C , CM000677.2:g.74896182T>C	GRCh38
NC_000015.9:g.75188523T>C , CM000677.1:g.75188523T>C	GRCh37
NC_000015.8:g.72975576T>C	NCBI36
NG_008921.1:g.11114T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.701T>C MANE Select	ENSP00000318318.6:p.Phe234Ser
ENST00000323744.10:c.518T>C	ENSP00000318192.6:p.Phe173Ser
ENST00000352410.8:c.701T>C	ENSP00000318318.6:p.Phe234Ser
ENST00000535694.5:c.551T>C	ENSP00000440447.1:p.Phe184Ser
ENST00000561470.5:c.*597T>C	ENSP00000454267.1:n.*597T>C
ENST00000562606.5:c.641T>C	ENSP00000457020.1:p.Phe214Ser
ENST00000562800.5:c.256-1357T>C	ENSP00000457619.1:n.256-1357T>C
ENST00000563422.5:c.701T>C	ENSP00000457885.1:p.Phe234Ser
ENST00000563786.5:c.641T>C	ENSP00000455241.1:p.Phe214Ser
ENST00000564003.5:c.368T>C	ENSP00000454312.1:p.Phe123Ser
ENST00000566377.5:c.701T>C	ENSP00000455405.1:p.Phe234Ser
ENST00000566556.1:n.749T>C
ENST00000567177.1:c.479T>C	ENSP00000457013.1:p.Phe160Ser
ENST00000569931.5:c.641T>C	ENSP00000455161.1:p.Phe214Ser
NM_001289155.1:c.701T>C	NP_001276084.1:p.Phe234Ser
NM_001289156.1:c.551T>C	NP_001276085.1:p.Phe184Ser
NM_001289157.1:c.518T>C	NP_001276086.1:p.Phe173Ser
NM_002435.2:c.701T>C	NP_002426.1:p.Phe234Ser
XM_011521592.1:c.689T>C	XP_011519894.1:p.Phe230Ser
XM_011521593.1:c.641T>C	XP_011519895.1:p.Phe214Ser
NM_001330372.1:c.641T>C	NP_001317301.1:p.Phe214Ser
XM_017022208.1:c.641T>C	XP_016877697.1:p.Phe214Ser
XM_017022209.2:c.551T>C	XP_016877698.1:p.Phe184Ser
NM_002435.3:c.701T>C MANE Select	NP_002426.1:p.Phe234Ser
NM_001289155.2:c.701T>C	NP_001276084.1:p.Phe234Ser
NM_001289156.2:c.551T>C	NP_001276085.1:p.Phe184Ser
NM_001289157.2:c.518T>C	NP_001276086.1:p.Phe173Ser
NM_001330372.2:c.641T>C	NP_001317301.1:p.Phe214Ser