Canonical Allele Identifier: CA715703780
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 2881240
ClinVar RCV Id: RCV003628846
dbSNP Id: rs1219886163

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74892643C>A , CM000677.2:g.74892643C>A GRCh38
NC_000015.9:g.75184984C>A , CM000677.1:g.75184984C>A GRCh37
NC_000015.8:g.72972037C>A NCBI36
NG_008921.1:g.7575C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352410.9:c.346-18C>A MANE Select ENSP00000318318.6:n.346-18C>A
ENST00000323744.10:c.346-18C>A ENSP00000318192.6:n.346-18C>A
ENST00000352410.8:c.346-18C>A ENSP00000318318.6:n.346-18C>A
ENST00000535694.5:c.196-18C>A ENSP00000440447.1:n.196-18C>A
ENST00000561470.5:c.*242-18C>A ENSP00000454267.1:n.*242-18C>A
ENST00000562606.5:c.286-18C>A ENSP00000457020.1:n.286-18C>A
ENST00000562800.5:c.255+1154C>A ENSP00000457619.1:n.255+1154C>A
ENST00000563422.5:c.346-18C>A ENSP00000457885.1:n.346-18C>A
ENST00000563786.5:c.286-18C>A ENSP00000455241.1:n.286-18C>A
ENST00000564003.5:c.196-18C>A ENSP00000454312.1:n.196-18C>A
ENST00000564633.5:c.286-18C>A ENSP00000455383.1:n.286-18C>A
ENST00000565576.5:c.346-18C>A ENSP00000454619.1:n.346-18C>A
ENST00000566377.5:c.346-18C>A ENSP00000455405.1:n.346-18C>A
ENST00000567116.5:n.377-18C>A
ENST00000567132.5:c.331-45C>A ENSP00000455972.1:n.331-45C>A
ENST00000567177.1:c.307-18C>A ENSP00000457013.1:n.307-18C>A
ENST00000567570.5:c.286-18C>A ENSP00000455477.1:n.286-18C>A
ENST00000568828.5:c.310-18C>A ENSP00000455065.1:n.310-18C>A
ENST00000568840.1:n.455-18C>A
ENST00000568907.5:c.256-18C>A ENSP00000457494.1:n.256-18C>A
ENST00000569233.5:c.403-18C>A ENSP00000454622.1:n.403-18C>A
ENST00000569931.5:c.286-18C>A ENSP00000455161.1:n.286-18C>A
NM_001289155.1:c.346-18C>A NP_001276084.1:n.346-18C>A
NM_001289156.1:c.196-18C>A NP_001276085.1:n.196-18C>A
NM_001289157.1:c.346-18C>A NP_001276086.1:n.346-18C>A
NM_002435.2:c.346-18C>A NP_002426.1:n.346-18C>A
XM_011521592.1:c.334-18C>A XP_011519894.1:n.334-18C>A
XM_011521593.1:c.286-18C>A XP_011519895.1:n.286-18C>A
NM_001330372.1:c.286-18C>A NP_001317301.1:n.286-18C>A
XM_017022208.1:c.286-18C>A XP_016877697.1:n.286-18C>A
XM_017022209.2:c.196-18C>A XP_016877698.1:n.196-18C>A
NM_002435.3:c.346-18C>A MANE Select NP_002426.1:n.346-18C>A
NM_001289155.2:c.346-18C>A NP_001276084.1:n.346-18C>A
NM_001289156.2:c.196-18C>A NP_001276085.1:n.196-18C>A
NM_001289157.2:c.346-18C>A NP_001276086.1:n.346-18C>A
NM_001330372.2:c.286-18C>A NP_001317301.1:n.286-18C>A