Canonical Allele Identifier: CA393169285
Gene: MPI HGNC NCBI

Linked Data

dbSNP Id: rs1419824964

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74890598C>G , CM000677.2:g.74890598C>G GRCh38
NC_000015.9:g.75182939C>G , CM000677.1:g.75182939C>G GRCh37
NC_000015.8:g.72969992C>G NCBI36
NG_008921.1:g.5530C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.88C>G MANE Select ENSP00000318318.6:p.Leu30Val
ENST00000323744.10:c.88C>G ENSP00000318192.6:p.Leu30Val
ENST00000352410.8:c.88C>G ENSP00000318318.6:p.Leu30Val
ENST00000535694.5:c.-7+509C>G ENSP00000440447.1:n.-7+509C>G
ENST00000561470.5:c.200C>G ENSP00000454267.1:p.Ala67Gly
ENST00000562606.5:c.28C>G ENSP00000457020.1:p.Leu10Val
ENST00000562800.5:c.88C>G ENSP00000457619.1:p.Leu30Val
ENST00000563422.5:c.88C>G ENSP00000457885.1:p.Leu30Val
ENST00000563786.5:c.28C>G ENSP00000455241.1:p.Leu10Val
ENST00000564003.5:c.-7+509C>G ENSP00000454312.1:n.-7+509C>G
ENST00000564633.5:c.28C>G ENSP00000455383.1:p.Leu10Val
ENST00000565576.5:c.88C>G ENSP00000454619.1:p.Leu30Val
ENST00000566377.5:c.88C>G ENSP00000455405.1:p.Leu30Val
ENST00000567116.5:n.119C>G
ENST00000567132.5:c.88C>G ENSP00000455972.1:p.Leu30Val
ENST00000567177.1:c.49C>G ENSP00000457013.1:p.Leu17Val
ENST00000567570.5:c.28C>G ENSP00000455477.1:p.Leu10Val
ENST00000568303.1:n.205C>G
ENST00000568828.5:c.88C>G ENSP00000455065.1:p.Leu30Val
ENST00000568840.1:n.197C>G
ENST00000568907.5:c.88C>G ENSP00000457494.1:p.Leu30Val
ENST00000569233.5:c.88C>G ENSP00000454622.1:p.Leu30Val
ENST00000569931.5:c.28C>G ENSP00000455161.1:p.Leu10Val
NM_001289155.1:c.88C>G NP_001276084.1:p.Leu30Val
NM_001289156.1:c.-7+509C>G NP_001276085.1:n.-7+509C>G
NM_001289157.1:c.88C>G NP_001276086.1:p.Leu30Val
NM_002435.2:c.88C>G NP_002426.1:p.Leu30Val
XM_011521592.1:c.76C>G XP_011519894.1:p.Leu26Val
XM_011521593.1:c.28C>G XP_011519895.1:p.Leu10Val
NM_001330372.1:c.28C>G NP_001317301.1:p.Leu10Val
XM_017022208.1:c.28C>G XP_016877697.1:p.Leu10Val
XM_017022209.2:c.-7+509C>G XP_016877698.1:n.-7+509C>G
NM_002435.3:c.88C>G MANE Select NP_002426.1:p.Leu30Val
NM_001289155.2:c.88C>G NP_001276084.1:p.Leu30Val
NM_001289156.2:c.-7+509C>G NP_001276085.1:n.-7+509C>G
NM_001289157.2:c.88C>G NP_001276086.1:p.Leu30Val
NM_001330372.2:c.28C>G NP_001317301.1:p.Leu10Val