Canonical Allele Identifier: CA272821715

Gene: MPI

Linked Data

• ClinVar Variation Id: 578568
• ClinVar RCV Id: RCV000701619
• dbSNP Id: rs371649838
• gnomAD v4: 15-74890555-G-C
• MyVariant Identifiers: chr15:g.75182896G>C (hg19) ; chr15:g.74890555G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74890555G>C , CM000677.2:g.74890555G>C	GRCh38
NC_000015.9:g.75182896G>C , CM000677.1:g.75182896G>C	GRCh37
NC_000015.8:g.72969949G>C	NCBI36
NG_008921.1:g.5487G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352410.9:c.45G>C MANE Select	ENSP00000318318.6:p.Gln15His
ENST00000323744.10:c.45G>C	ENSP00000318192.6:p.Gln15His
ENST00000352410.8:c.45G>C	ENSP00000318318.6:p.Gln15His
ENST00000535694.5:c.-7+466G>C	ENSP00000440447.1:n.-7+466G>C
ENST00000561470.5:c.157G>C	ENSP00000454267.1:p.Val53Leu
ENST00000562606.5:c.-16G>C	ENSP00000457020.1:n.-16G>C
ENST00000562800.5:c.45G>C	ENSP00000457619.1:p.Gln15His
ENST00000563422.5:c.45G>C	ENSP00000457885.1:p.Gln15His
ENST00000563786.5:c.-16G>C	ENSP00000455241.1:n.-16G>C
ENST00000564003.5:c.-7+466G>C	ENSP00000454312.1:n.-7+466G>C
ENST00000564633.5:c.-15-1G>C	ENSP00000455383.1:n.-15-1G>C
ENST00000565576.5:c.45G>C	ENSP00000454619.1:p.Gln15His
ENST00000566377.5:c.45G>C	ENSP00000455405.1:p.Gln15His
ENST00000567116.5:n.76G>C
ENST00000567132.5:c.45G>C	ENSP00000455972.1:p.Gln15His
ENST00000567177.1:c.6G>C	ENSP00000457013.1:p.Gln2His
ENST00000567570.5:c.-16G>C	ENSP00000455477.1:n.-16G>C
ENST00000568303.1:n.162G>C
ENST00000568828.5:c.45G>C	ENSP00000455065.1:p.Gln15His
ENST00000568840.1:n.154G>C
ENST00000568907.5:c.45G>C	ENSP00000457494.1:p.Gln15His
ENST00000569233.5:c.45G>C	ENSP00000454622.1:p.Gln15His
ENST00000569931.5:c.-16G>C	ENSP00000455161.1:n.-16G>C
NM_001289155.1:c.45G>C	NP_001276084.1:p.Gln15His
NM_001289156.1:c.-7+466G>C	NP_001276085.1:n.-7+466G>C
NM_001289157.1:c.45G>C	NP_001276086.1:p.Gln15His
NM_002435.2:c.45G>C	NP_002426.1:p.Gln15His
XM_011521592.1:c.33G>C	XP_011519894.1:p.Gln11His
XM_011521593.1:c.-16G>C	XP_011519895.1:n.-16G>C
NM_001330372.1:c.-16G>C	NP_001317301.1:n.-16G>C
XM_017022208.1:c.-16G>C	XP_016877697.1:n.-16G>C
XM_017022209.2:c.-7+466G>C	XP_016877698.1:n.-7+466G>C
NM_002435.3:c.45G>C MANE Select	NP_002426.1:p.Gln15His
NM_001289155.2:c.45G>C	NP_001276084.1:p.Gln15His
NM_001289156.2:c.-7+466G>C	NP_001276085.1:n.-7+466G>C
NM_001289157.2:c.45G>C	NP_001276086.1:p.Gln15His
NM_001330372.2:c.-16G>C	NP_001317301.1:n.-16G>C