Canonical Allele Identifier: CA393176241
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896373C>A , CM000677.2:g.74896373C>A GRCh38
NC_000015.9:g.75188714C>A , CM000677.1:g.75188714C>A GRCh37
NC_000015.8:g.72975767C>A NCBI36
NG_008921.1:g.11305C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.844+48C>A MANE Select ENSP00000318318.6:n.844+48C>A
ENST00000323744.10:c.661+48C>A ENSP00000318192.6:n.661+48C>A
ENST00000352410.8:c.844+48C>A ENSP00000318318.6:n.844+48C>A
ENST00000535694.5:c.694+48C>A ENSP00000440447.1:n.694+48C>A
ENST00000562606.5:c.832C>A ENSP00000457020.1:p.Leu278Met
ENST00000562800.5:c.256-1166C>A ENSP00000457619.1:n.256-1166C>A
ENST00000563422.5:c.892C>A ENSP00000457885.1:p.Leu298Met
ENST00000563786.5:c.784+48C>A ENSP00000455241.1:n.784+48C>A
ENST00000564003.5:c.559C>A ENSP00000454312.1:p.Leu187Met
ENST00000566377.5:c.844+48C>A ENSP00000455405.1:n.844+48C>A
ENST00000566556.1:n.940C>A
ENST00000567177.1:c.622+48C>A ENSP00000457013.1:n.622+48C>A
ENST00000569931.5:c.784+48C>A ENSP00000455161.1:n.784+48C>A
NM_001289155.1:c.844+48C>A NP_001276084.1:n.844+48C>A
NM_001289156.1:c.694+48C>A NP_001276085.1:n.694+48C>A
NM_001289157.1:c.661+48C>A NP_001276086.1:n.661+48C>A
NM_002435.2:c.844+48C>A NP_002426.1:n.844+48C>A
XM_011521592.1:c.832+48C>A XP_011519894.1:n.832+48C>A
XM_011521593.1:c.784+48C>A XP_011519895.1:n.784+48C>A
NM_001330372.1:c.784+48C>A NP_001317301.1:n.784+48C>A
XM_017022208.1:c.784+48C>A XP_016877697.1:n.784+48C>A
XM_017022209.2:c.694+48C>A XP_016877698.1:n.694+48C>A
NM_002435.3:c.844+48C>A MANE Select NP_002426.1:n.844+48C>A
NM_001289155.2:c.844+48C>A NP_001276084.1:n.844+48C>A
NM_001289156.2:c.694+48C>A NP_001276085.1:n.694+48C>A
NM_001289157.2:c.661+48C>A NP_001276086.1:n.661+48C>A
NM_001330372.2:c.784+48C>A NP_001317301.1:n.784+48C>A