Canonical Allele Identifier: CA393175852
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896196C>A , CM000677.2:g.74896196C>A GRCh38
NC_000015.9:g.75188537C>A , CM000677.1:g.75188537C>A GRCh37
NC_000015.8:g.72975590C>A NCBI36
NG_008921.1:g.11128C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.715C>A MANE Select ENSP00000318318.6:p.Leu239Ile
ENST00000323744.10:c.532C>A ENSP00000318192.6:p.Leu178Ile
ENST00000352410.8:c.715C>A ENSP00000318318.6:p.Leu239Ile
ENST00000535694.5:c.565C>A ENSP00000440447.1:p.Leu189Ile
ENST00000562606.5:c.655C>A ENSP00000457020.1:p.Leu219Ile
ENST00000562800.5:c.256-1343C>A ENSP00000457619.1:n.256-1343C>A
ENST00000563422.5:c.715C>A ENSP00000457885.1:p.Leu239Ile
ENST00000563786.5:c.655C>A ENSP00000455241.1:p.Leu219Ile
ENST00000564003.5:c.382C>A ENSP00000454312.1:p.Leu128Ile
ENST00000566377.5:c.715C>A ENSP00000455405.1:p.Leu239Ile
ENST00000566556.1:n.763C>A
ENST00000567177.1:c.493C>A ENSP00000457013.1:p.Leu165Ile
ENST00000569931.5:c.655C>A ENSP00000455161.1:p.Leu219Ile
NM_001289155.1:c.715C>A NP_001276084.1:p.Leu239Ile
NM_001289156.1:c.565C>A NP_001276085.1:p.Leu189Ile
NM_001289157.1:c.532C>A NP_001276086.1:p.Leu178Ile
NM_002435.2:c.715C>A NP_002426.1:p.Leu239Ile
XM_011521592.1:c.703C>A XP_011519894.1:p.Leu235Ile
XM_011521593.1:c.655C>A XP_011519895.1:p.Leu219Ile
NM_001330372.1:c.655C>A NP_001317301.1:p.Leu219Ile
XM_017022208.1:c.655C>A XP_016877697.1:p.Leu219Ile
XM_017022209.2:c.565C>A XP_016877698.1:p.Leu189Ile
NM_002435.3:c.715C>A MANE Select NP_002426.1:p.Leu239Ile
NM_001289155.2:c.715C>A NP_001276084.1:p.Leu239Ile
NM_001289156.2:c.565C>A NP_001276085.1:p.Leu189Ile
NM_001289157.2:c.532C>A NP_001276086.1:p.Leu178Ile
NM_001330372.2:c.655C>A NP_001317301.1:p.Leu219Ile