Canonical Allele Identifier: CA393175994

Gene: MPI

Linked Data

• ClinVar Variation Id: 989848
• ClinVar RCV Id: RCV001277749
• dbSNP Id: rs2064816825
• gnomAD v4: 15-74896262-A-G
• MyVariant Identifiers: chr15:g.75188603A>G (hg19) ; chr15:g.74896262A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896262A>G , CM000677.2:g.74896262A>G	GRCh38
NC_000015.9:g.75188603A>G , CM000677.1:g.75188603A>G	GRCh37
NC_000015.8:g.72975656A>G	NCBI36
NG_008921.1:g.11194A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.781A>G MANE Select	ENSP00000318318.6:p.Thr261Ala
ENST00000323744.10:c.598A>G	ENSP00000318192.6:p.Thr200Ala
ENST00000352410.8:c.781A>G	ENSP00000318318.6:p.Thr261Ala
ENST00000535694.5:c.631A>G	ENSP00000440447.1:p.Thr211Ala
ENST00000562606.5:c.721A>G	ENSP00000457020.1:p.Thr241Ala
ENST00000562800.5:c.256-1277A>G	ENSP00000457619.1:n.256-1277A>G
ENST00000563422.5:c.781A>G	ENSP00000457885.1:p.Thr261Ala
ENST00000563786.5:c.721A>G	ENSP00000455241.1:p.Thr241Ala
ENST00000564003.5:c.448A>G	ENSP00000454312.1:p.Thr150Ala
ENST00000566377.5:c.781A>G	ENSP00000455405.1:p.Thr261Ala
ENST00000566556.1:n.829A>G
ENST00000567177.1:c.559A>G	ENSP00000457013.1:p.Thr187Ala
ENST00000569931.5:c.721A>G	ENSP00000455161.1:p.Thr241Ala
NM_001289155.1:c.781A>G	NP_001276084.1:p.Thr261Ala
NM_001289156.1:c.631A>G	NP_001276085.1:p.Thr211Ala
NM_001289157.1:c.598A>G	NP_001276086.1:p.Thr200Ala
NM_002435.2:c.781A>G	NP_002426.1:p.Thr261Ala
XM_011521592.1:c.769A>G	XP_011519894.1:p.Thr257Ala
XM_011521593.1:c.721A>G	XP_011519895.1:p.Thr241Ala
NM_001330372.1:c.721A>G	NP_001317301.1:p.Thr241Ala
XM_017022208.1:c.721A>G	XP_016877697.1:p.Thr241Ala
XM_017022209.2:c.631A>G	XP_016877698.1:p.Thr211Ala
NM_002435.3:c.781A>G MANE Select	NP_002426.1:p.Thr261Ala
NM_001289155.2:c.781A>G	NP_001276084.1:p.Thr261Ala
NM_001289156.2:c.631A>G	NP_001276085.1:p.Thr211Ala
NM_001289157.2:c.598A>G	NP_001276086.1:p.Thr200Ala
NM_001330372.2:c.721A>G	NP_001317301.1:p.Thr241Ala