Canonical Allele Identifier: CA491491443
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 2982834
ClinVar RCV Id: RCV003845465
MyVariant Identifiers: chr15:g.75188632G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896291G>A , CM000677.2:g.74896291G>A GRCh38
NC_000015.9:g.75188632G>A , CM000677.1:g.75188632G>A GRCh37
NC_000015.8:g.72975685G>A NCBI36
NG_008921.1:g.11223G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.810G>A MANE Select ENSP00000318318.6:p.Leu270=
ENST00000323744.10:c.627G>A ENSP00000318192.6:p.Leu209=
ENST00000352410.8:c.810G>A ENSP00000318318.6:p.Leu270=
ENST00000535694.5:c.660G>A ENSP00000440447.1:p.Leu220=
ENST00000562606.5:c.750G>A ENSP00000457020.1:p.Leu250=
ENST00000562800.5:c.256-1248G>A ENSP00000457619.1:n.256-1248G>A
ENST00000563422.5:c.810G>A ENSP00000457885.1:p.Leu270=
ENST00000563786.5:c.750G>A ENSP00000455241.1:p.Leu250=
ENST00000564003.5:c.477G>A ENSP00000454312.1:p.Leu159=
ENST00000566377.5:c.810G>A ENSP00000455405.1:p.Leu270=
ENST00000566556.1:n.858G>A
ENST00000567177.1:c.588G>A ENSP00000457013.1:p.Leu196=
ENST00000569931.5:c.750G>A ENSP00000455161.1:p.Leu250=
NM_001289155.1:c.810G>A NP_001276084.1:p.Leu270=
NM_001289156.1:c.660G>A NP_001276085.1:p.Leu220=
NM_001289157.1:c.627G>A NP_001276086.1:p.Leu209=
NM_002435.2:c.810G>A NP_002426.1:p.Leu270=
XM_011521592.1:c.798G>A XP_011519894.1:p.Leu266=
XM_011521593.1:c.750G>A XP_011519895.1:p.Leu250=
NM_001330372.1:c.750G>A NP_001317301.1:p.Leu250=
XM_017022208.1:c.750G>A XP_016877697.1:p.Leu250=
XM_017022209.2:c.660G>A XP_016877698.1:p.Leu220=
NM_002435.3:c.810G>A MANE Select NP_002426.1:p.Leu270=
NM_001289155.2:c.810G>A NP_001276084.1:p.Leu270=
NM_001289156.2:c.660G>A NP_001276085.1:p.Leu220=
NM_001289157.2:c.627G>A NP_001276086.1:p.Leu209=
NM_001330372.2:c.750G>A NP_001317301.1:p.Leu250=