Canonical Allele Identifier: CA375853580
Community Standard Title: NM_004508.4(IDI1):c.233G>T (p.Cys78Phe)
Gene: IDI1 HGNC NCBI
IDI2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.1044079C>A , CM000672.2:g.1044079C>A GRCh38
NC_000010.10:g.1090019C>A , CM000672.1:g.1090019C>A GRCh37
NC_000010.9:g.1080019C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004508.4:c.233G>T (IDI1) MANE Select NP_004499.2:p.Cys78Phe
ENST00000381344.8:c.233G>T (IDI1) MANE Select ENSP00000370748.3:p.Cys78Phe
NM_001317955.1:c.65G>T (IDI1) NP_001304884.1:p.Cys22Phe
NM_001317955.2:c.65G>T (IDI1) NP_001304884.1:p.Cys22Phe
NM_001317956.1:c.65G>T (IDI1) NP_001304885.1:p.Cys22Phe
NM_001317956.2:c.65G>T (IDI1) NP_001304885.1:p.Cys22Phe
NM_001317957.1:c.56-686G>T (IDI1) NP_001304886.1:n.56-686G>T
NM_001317957.2:c.56-686G>T (IDI1) NP_001304886.1:n.56-686G>T
NM_004508.2:c.233G>T (IDI1) NP_004499.2:p.Cys78Phe
NM_004508.3:c.233G>T (IDI1) NP_004499.2:p.Cys78Phe
NR_024628.1:n.966C>A (IDI2-AS1)
NR_024629.1:n.803C>A (IDI2-AS1)
NR_027708.1:n.1099C>A (IDI2-AS1)
NR_027709.1:n.1183C>A (IDI2-AS1)
NR_134300.1:n.409-686G>T (IDI1)
NR_134300.2:n.397-686G>T (IDI1)
NR_134301.1:n.504-686G>T (IDI1)
ENST00000381344.7:c.233G>T (IDI1) ENSP00000370748.3:p.Cys78Phe
ENST00000427898.5:c.56-686G>T (IDI1) ENSP00000404771.1:n.56-686G>T
ENST00000429642.1:c.62G>T (IDI1) ENSP00000401879.1:p.Cys21Phe
ENST00000429642.2:c.62G>T (IDI1) ENSP00000401879.2:p.Cys21Phe
ENST00000482091.1:n.165G>T (IDI1)
ENST00000491735.1:n.241-686G>T (IDI1)
ENST00000695775.1:c.65G>T (IDI1) ENSP00000512165.1:p.Cys22Phe
XM_005252445.1:c.65G>T (IDI1) XP_005252502.1:p.Cys22Phe
XM_011519456.1:c.65G>T (IDI1) XP_011517758.1:p.Cys22Phe
XM_011519457.1:c.65G>T (IDI1) XP_011517759.1:p.Cys22Phe
XM_017016191.2:c.107-686G>T (IDI1) XP_016871680.1:n.107-686G>T
XM_024447979.1:c.35-686G>T (IDI1) XP_024303747.1:n.35-686G>T