Canonical Allele Identifier: CA5383660
Community Standard Title: NM_004508.4(IDI1):c.428G>A (p.Cys143Tyr)
Gene: IDI1 HGNC NCBI
IDI2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.1042741C>T , CM000672.2:g.1042741C>T GRCh38
NC_000010.10:g.1088681C>T , CM000672.1:g.1088681C>T GRCh37
NC_000010.9:g.1078681C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004508.4:c.428G>A (IDI1) MANE Select NP_004499.2:p.Cys143Tyr
ENST00000381344.8:c.428G>A (IDI1) MANE Select ENSP00000370748.3:p.Cys143Tyr
NM_001317955.1:c.260G>A (IDI1) NP_001304884.1:p.Cys87Tyr
NM_001317955.2:c.260G>A (IDI1) NP_001304884.1:p.Cys87Tyr
NM_001317956.1:c.260G>A (IDI1) NP_001304885.1:p.Cys87Tyr
NM_001317956.2:c.260G>A (IDI1) NP_001304885.1:p.Cys87Tyr
NM_001317957.1:c.170G>A (IDI1) NP_001304886.1:p.Cys57Tyr
NM_001317957.2:c.170G>A (IDI1) NP_001304886.1:p.Cys57Tyr
NM_004508.2:c.428G>A (IDI1) NP_004499.2:p.Cys143Tyr
NM_004508.3:c.428G>A (IDI1) NP_004499.2:p.Cys143Tyr
NR_024628.1:n.416-788C>T (IDI2-AS1)
NR_024629.1:n.253-788C>T (IDI2-AS1)
NR_027708.1:n.549-788C>T (IDI2-AS1)
NR_027709.1:n.633-788C>T (IDI2-AS1)
NR_134300.1:n.523G>A (IDI1)
NR_134300.2:n.511G>A (IDI1)
NR_134301.1:n.618G>A (IDI1)
ENST00000381344.7:c.428G>A (IDI1) ENSP00000370748.3:p.Cys143Tyr
ENST00000427898.5:c.170G>A (IDI1) ENSP00000404771.1:p.Cys57Tyr
ENST00000429642.1:c.257G>A (IDI1) ENSP00000401879.1:p.Cys86Tyr
ENST00000429642.2:c.257G>A (IDI1) ENSP00000401879.2:p.Cys86Tyr
ENST00000482091.1:n.965G>A (IDI1)
ENST00000491735.1:n.355G>A (IDI1)
ENST00000695775.1:c.260G>A (IDI1) ENSP00000512165.1:p.Cys87Tyr
XM_005252445.1:c.260G>A (IDI1) XP_005252502.1:p.Cys87Tyr
XM_011519456.1:c.260G>A (IDI1) XP_011517758.1:p.Cys87Tyr
XM_011519457.1:c.260G>A (IDI1) XP_011517759.1:p.Cys87Tyr
XM_017016191.2:c.221G>A (IDI1) XP_016871680.1:p.Cys74Tyr
XM_024447979.1:c.149G>A (IDI1) XP_024303747.1:p.Cys50Tyr
XM_024447980.1:c.137G>A (IDI1) XP_024303748.1:p.Cys46Tyr