Canonical Allele Identifier: CA354144484

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993929G>A , CM000665.2:g.121993929G>A	GRCh38
NC_000003.11:g.121712776G>A , CM000665.1:g.121712776G>A	GRCh37
NC_000003.10:g.123195466G>A	NCBI36
NG_031870.1:g.33352C>T
NG_031870.2:g.71626C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001199799.2:c.820C>T MANE Select	NP_001186728.1:p.Gln274Ter
ENST00000344209.10:c.820C>T MANE Select	ENSP00000345667.5:p.Gln274Ter
NM_001199799.1:c.820C>T	NP_001186728.1:p.Gln274Ter
NM_001199800.1:c.553C>T	NP_001186729.1:p.Gln185Ter
NM_001199800.2:c.553C>T	NP_001186729.1:p.Gln185Ter
NM_175924.3:c.688C>T	NP_787120.1:p.Gln230Ter
NM_175924.4:c.688C>T	NP_787120.1:p.Gln230Ter
ENST00000273691.7:c.688C>T	ENSP00000273691.3:p.Gln230Ter
ENST00000344209.9:c.820C>T	ENSP00000345667.5:p.Gln274Ter
ENST00000393631.5:c.553C>T	ENSP00000377251.1:p.Gln185Ter
ENST00000460554.1:n.922C>T
ENST00000460554.2:n.770C>T
ENST00000462014.1:c.724C>T	ENSP00000419414.1:p.Gln242Ter
ENST00000642615.1:c.*3C>T	ENSP00000495499.1:n.*3C>T
XM_005247389.3:c.724C>T	XP_005247446.1:p.Gln242Ter
XM_005247389.4:c.724C>T	XP_005247446.1:p.Gln242Ter
XM_011512738.1:c.820C>T	XP_011511040.1:p.Gln274Ter
XM_011512738.2:c.820C>T	XP_011511040.1:p.Gln274Ter
XM_011512739.1:c.283C>T	XP_011511041.1:p.Gln95Ter
XM_011512739.2:c.283C>T	XP_011511041.1:p.Gln95Ter