Canonical Allele Identifier: CA2573151152
Community Standard Title: NM_002435.3(MPI):c.488-5T>C
Gene: MPI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74893133T>C , CM000677.2:g.74893133T>C GRCh38
NC_000015.9:g.75185474T>C , CM000677.1:g.75185474T>C GRCh37
NC_000015.8:g.72972527T>C NCBI36
NG_008921.1:g.8065T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002435.3:c.488-5T>C MANE Select NP_002426.1:n.488-5T>C
ENST00000352410.9:c.488-5T>C MANE Select ENSP00000318318.6:n.488-5T>C
NM_001289155.1:c.488-5T>C NP_001276084.1:n.488-5T>C
NM_001289155.2:c.488-5T>C NP_001276084.1:n.488-5T>C
NM_001289156.1:c.338-5T>C NP_001276085.1:n.338-5T>C
NM_001289156.2:c.338-5T>C NP_001276085.1:n.338-5T>C
NM_001289157.1:c.487+331T>C NP_001276086.1:n.487+331T>C
NM_001289157.2:c.487+331T>C NP_001276086.1:n.487+331T>C
NM_001330372.1:c.428-5T>C NP_001317301.1:n.428-5T>C
NM_001330372.2:c.428-5T>C NP_001317301.1:n.428-5T>C
NM_002435.2:c.488-5T>C NP_002426.1:n.488-5T>C
ENST00000323744.10:c.487+331T>C ENSP00000318192.6:n.487+331T>C
ENST00000352410.8:c.488-5T>C ENSP00000318318.6:n.488-5T>C
ENST00000535694.5:c.338-5T>C ENSP00000440447.1:n.338-5T>C
ENST00000561470.5:c.*384-5T>C ENSP00000454267.1:n.*384-5T>C
ENST00000562606.5:c.428-5T>C ENSP00000457020.1:n.428-5T>C
ENST00000562800.5:c.255+1644T>C ENSP00000457619.1:n.255+1644T>C
ENST00000563422.5:c.488-5T>C ENSP00000457885.1:n.488-5T>C
ENST00000563786.5:c.428-5T>C ENSP00000455241.1:n.428-5T>C
ENST00000564003.5:c.337+331T>C ENSP00000454312.1:n.337+331T>C
ENST00000564633.5:c.428-5T>C ENSP00000455383.1:n.428-5T>C
ENST00000565576.5:c.488-5T>C ENSP00000454619.1:n.488-5T>C
ENST00000566377.5:c.488-5T>C ENSP00000455405.1:n.488-5T>C
ENST00000567132.5:c.446-5T>C ENSP00000455972.1:n.446-5T>C
ENST00000567177.1:c.448+331T>C ENSP00000457013.1:n.448+331T>C
ENST00000568828.5:c.452-5T>C ENSP00000455065.1:n.452-5T>C
ENST00000568907.5:c.398-5T>C ENSP00000457494.1:n.398-5T>C
ENST00000569931.5:c.428-5T>C ENSP00000455161.1:n.428-5T>C
XM_011521592.1:c.476-5T>C XP_011519894.1:n.476-5T>C
XM_011521593.1:c.428-5T>C XP_011519895.1:n.428-5T>C
XM_017022208.1:c.428-5T>C XP_016877697.1:n.428-5T>C
XM_017022209.2:c.338-5T>C XP_016877698.1:n.338-5T>C