Canonical Allele Identifier: CA393176253
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896378T>G , CM000677.2:g.74896378T>G GRCh38
NC_000015.9:g.75188719T>G , CM000677.1:g.75188719T>G GRCh37
NC_000015.8:g.72975772T>G NCBI36
NG_008921.1:g.11310T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.844+53T>G MANE Select ENSP00000318318.6:n.844+53T>G
ENST00000323744.10:c.661+53T>G ENSP00000318192.6:n.661+53T>G
ENST00000352410.8:c.844+53T>G ENSP00000318318.6:n.844+53T>G
ENST00000535694.5:c.694+53T>G ENSP00000440447.1:n.694+53T>G
ENST00000562606.5:c.837T>G ENSP00000457020.1:p.Phe279Leu
ENST00000562800.5:c.256-1161T>G ENSP00000457619.1:n.256-1161T>G
ENST00000563422.5:c.897T>G ENSP00000457885.1:p.Phe299Leu
ENST00000563786.5:c.784+53T>G ENSP00000455241.1:n.784+53T>G
ENST00000564003.5:c.564T>G ENSP00000454312.1:p.Phe188Leu
ENST00000566377.5:c.844+53T>G ENSP00000455405.1:n.844+53T>G
ENST00000566556.1:n.945T>G
ENST00000567177.1:c.622+53T>G ENSP00000457013.1:n.622+53T>G
ENST00000569931.5:c.784+53T>G ENSP00000455161.1:n.784+53T>G
NM_001289155.1:c.844+53T>G NP_001276084.1:n.844+53T>G
NM_001289156.1:c.694+53T>G NP_001276085.1:n.694+53T>G
NM_001289157.1:c.661+53T>G NP_001276086.1:n.661+53T>G
NM_002435.2:c.844+53T>G NP_002426.1:n.844+53T>G
XM_011521592.1:c.832+53T>G XP_011519894.1:n.832+53T>G
XM_011521593.1:c.784+53T>G XP_011519895.1:n.784+53T>G
NM_001330372.1:c.784+53T>G NP_001317301.1:n.784+53T>G
XM_017022208.1:c.784+53T>G XP_016877697.1:n.784+53T>G
XM_017022209.2:c.694+53T>G XP_016877698.1:n.694+53T>G
NM_002435.3:c.844+53T>G MANE Select NP_002426.1:n.844+53T>G
NM_001289155.2:c.844+53T>G NP_001276084.1:n.844+53T>G
NM_001289156.2:c.694+53T>G NP_001276085.1:n.694+53T>G
NM_001289157.2:c.661+53T>G NP_001276086.1:n.661+53T>G
NM_001330372.2:c.784+53T>G NP_001317301.1:n.784+53T>G