Canonical Allele Identifier: CA7662386
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 2162893
ClinVar RCV Id: RCV003070476
dbSNP Id: rs750510350

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74891404G>T , CM000677.2:g.74891404G>T GRCh38
NC_000015.9:g.75183745G>T , CM000677.1:g.75183745G>T GRCh37
NC_000015.8:g.72970798G>T NCBI36
NG_008921.1:g.6336G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.170G>T MANE Select ENSP00000318318.6:p.Gly57Val
ENST00000323744.10:c.170G>T ENSP00000318192.6:p.Gly57Val
ENST00000352410.8:c.170G>T ENSP00000318318.6:p.Gly57Val
ENST00000535694.5:c.20G>T ENSP00000440447.1:p.Gly7Val
ENST00000561470.5:c.*66G>T ENSP00000454267.1:n.*66G>T
ENST00000562606.5:c.110G>T ENSP00000457020.1:p.Gly37Val
ENST00000562800.5:c.170G>T ENSP00000457619.1:p.Gly57Val
ENST00000563422.5:c.170G>T ENSP00000457885.1:p.Gly57Val
ENST00000563786.5:c.110G>T ENSP00000455241.1:p.Gly37Val
ENST00000564003.5:c.20G>T ENSP00000454312.1:p.Gly7Val
ENST00000564633.5:c.110G>T ENSP00000455383.1:p.Gly37Val
ENST00000565576.5:c.170G>T ENSP00000454619.1:p.Gly57Val
ENST00000566377.5:c.170G>T ENSP00000455405.1:p.Gly57Val
ENST00000567116.5:n.201G>T
ENST00000567132.5:c.170G>T ENSP00000455972.1:p.Gly57Val
ENST00000567177.1:c.131G>T ENSP00000457013.1:p.Gly44Val
ENST00000567570.5:c.110G>T ENSP00000455477.1:p.Gly37Val
ENST00000568828.5:c.145-11G>T ENSP00000455065.1:n.145-11G>T
ENST00000568840.1:n.279G>T
ENST00000568907.5:c.170G>T ENSP00000457494.1:p.Gly57Val
ENST00000569233.5:c.227G>T ENSP00000454622.1:p.Gly76Val
ENST00000569931.5:c.110G>T ENSP00000455161.1:p.Gly37Val
NM_001289155.1:c.170G>T NP_001276084.1:p.Gly57Val
NM_001289156.1:c.20G>T NP_001276085.1:p.Gly7Val
NM_001289157.1:c.170G>T NP_001276086.1:p.Gly57Val
NM_002435.2:c.170G>T NP_002426.1:p.Gly57Val
XM_011521592.1:c.158G>T XP_011519894.1:p.Gly53Val
XM_011521593.1:c.110G>T XP_011519895.1:p.Gly37Val
NM_001330372.1:c.110G>T NP_001317301.1:p.Gly37Val
XM_017022208.1:c.110G>T XP_016877697.1:p.Gly37Val
XM_017022209.2:c.20G>T XP_016877698.1:p.Gly7Val
NM_002435.3:c.170G>T MANE Select NP_002426.1:p.Gly57Val
NM_001289155.2:c.170G>T NP_001276084.1:p.Gly57Val
NM_001289156.2:c.20G>T NP_001276085.1:p.Gly7Val
NM_001289157.2:c.170G>T NP_001276086.1:p.Gly57Val
NM_001330372.2:c.110G>T NP_001317301.1:p.Gly37Val