Canonical Allele Identifier: CA1397750711
Gene: ILDR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121993223G= , CM000665.2:g.121993223G= GRCh38
NC_000003.11:g.121712070G= , CM000665.1:g.121712070G= GRCh37
NC_000003.10:g.123194760G= NCBI36
NG_031870.1:g.34058C=
NG_031870.2:g.72332C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.1526C= MANE Select ENSP00000345667.5:p.Pro509=
ENST00000460554.2:n.1476C=
ENST00000642615.1:c.*709C= ENSP00000495499.1:n.*709C=
ENST00000273691.7:c.1394C= ENSP00000273691.3:p.Pro465=
ENST00000344209.9:c.1526C= ENSP00000345667.5:p.Pro509=
ENST00000393631.5:c.1259C= ENSP00000377251.1:p.Pro420=
ENST00000460554.1:n.1628C=
ENST00000462014.1:c.1430C= ENSP00000419414.1:p.Pro477=
NM_001199799.1:c.1526C= NP_001186728.1:p.Pro509=
NM_001199800.1:c.1259C= NP_001186729.1:p.Pro420=
NM_175924.3:c.1394C= NP_787120.1:p.Pro465=
XM_005247389.3:c.1430C= XP_005247446.1:p.Pro477=
XM_011512738.1:c.1526C= XP_011511040.1:p.Pro509=
XM_011512739.1:c.989C= XP_011511041.1:p.Pro330=
XM_005247389.4:c.1430C= XP_005247446.1:p.Pro477=
XM_011512738.2:c.1526C= XP_011511040.1:p.Pro509=
XM_011512739.2:c.989C= XP_011511041.1:p.Pro330=
NM_001199799.2:c.1526C= MANE Select NP_001186728.1:p.Pro509=
NM_001199800.2:c.1259C= NP_001186729.1:p.Pro420=
NM_175924.4:c.1394C= NP_787120.1:p.Pro465=