Canonical Allele Identifier: CA393176127

Gene: MPI

Linked Data

• ClinVar Variation Id: 554263
• ClinVar RCV Id: RCV000669864
• dbSNP Id: rs1394866894
• gnomAD v2: 15-75188667-G-A
• gnomAD v4: 15-74896326-G-A
• MyVariant Identifiers: chr15:g.75188667G>A (hg19) ; chr15:g.74896326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896326G>A , CM000677.2:g.74896326G>A	GRCh38
NC_000015.9:g.75188667G>A , CM000677.1:g.75188667G>A	GRCh37
NC_000015.8:g.72975720G>A	NCBI36
NG_008921.1:g.11258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.844+1G>A MANE Select	ENSP00000318318.6:n.844+1G>A
ENST00000323744.10:c.661+1G>A	ENSP00000318192.6:n.661+1G>A
ENST00000352410.8:c.844+1G>A	ENSP00000318318.6:n.844+1G>A
ENST00000535694.5:c.694+1G>A	ENSP00000440447.1:n.694+1G>A
ENST00000562606.5:c.785G>A	ENSP00000457020.1:p.Gly262Asp
ENST00000562800.5:c.256-1213G>A	ENSP00000457619.1:n.256-1213G>A
ENST00000563422.5:c.845G>A	ENSP00000457885.1:p.Gly282Asp
ENST00000563786.5:c.784+1G>A	ENSP00000455241.1:n.784+1G>A
ENST00000564003.5:c.512G>A	ENSP00000454312.1:p.Gly171Asp
ENST00000566377.5:c.844+1G>A	ENSP00000455405.1:n.844+1G>A
ENST00000566556.1:n.893G>A
ENST00000567177.1:c.622+1G>A	ENSP00000457013.1:n.622+1G>A
ENST00000569931.5:c.784+1G>A	ENSP00000455161.1:n.784+1G>A
NM_001289155.1:c.844+1G>A	NP_001276084.1:n.844+1G>A
NM_001289156.1:c.694+1G>A	NP_001276085.1:n.694+1G>A
NM_001289157.1:c.661+1G>A	NP_001276086.1:n.661+1G>A
NM_002435.2:c.844+1G>A	NP_002426.1:n.844+1G>A
XM_011521592.1:c.832+1G>A	XP_011519894.1:n.832+1G>A
XM_011521593.1:c.784+1G>A	XP_011519895.1:n.784+1G>A
NM_001330372.1:c.784+1G>A	NP_001317301.1:n.784+1G>A
XM_017022208.1:c.784+1G>A	XP_016877697.1:n.784+1G>A
XM_017022209.2:c.694+1G>A	XP_016877698.1:n.694+1G>A
NM_002435.3:c.844+1G>A MANE Select	NP_002426.1:n.844+1G>A
NM_001289155.2:c.844+1G>A	NP_001276084.1:n.844+1G>A
NM_001289156.2:c.694+1G>A	NP_001276085.1:n.694+1G>A
NM_001289157.2:c.661+1G>A	NP_001276086.1:n.661+1G>A
NM_001330372.2:c.784+1G>A	NP_001317301.1:n.784+1G>A