Canonical Allele Identifier: CA354142085

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712083G>A (hg19) ; chr3:g.121993236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993236G>A , CM000665.2:g.121993236G>A	GRCh38
NC_000003.11:g.121712083G>A , CM000665.1:g.121712083G>A	GRCh37
NC_000003.10:g.123194773G>A	NCBI36
NG_031870.1:g.34045C>T
NG_031870.2:g.72319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1513C>T MANE Select	ENSP00000345667.5:p.Pro505Ser
ENST00000460554.2:n.1463C>T
ENST00000642615.1:c.*696C>T	ENSP00000495499.1:n.*696C>T
ENST00000273691.7:c.1381C>T	ENSP00000273691.3:p.Pro461Ser
ENST00000344209.9:c.1513C>T	ENSP00000345667.5:p.Pro505Ser
ENST00000393631.5:c.1246C>T	ENSP00000377251.1:p.Pro416Ser
ENST00000460554.1:n.1615C>T
ENST00000462014.1:c.1417C>T	ENSP00000419414.1:p.Pro473Ser
NM_001199799.1:c.1513C>T	NP_001186728.1:p.Pro505Ser
NM_001199800.1:c.1246C>T	NP_001186729.1:p.Pro416Ser
NM_175924.3:c.1381C>T	NP_787120.1:p.Pro461Ser
XM_005247389.3:c.1417C>T	XP_005247446.1:p.Pro473Ser
XM_011512738.1:c.1513C>T	XP_011511040.1:p.Pro505Ser
XM_011512739.1:c.976C>T	XP_011511041.1:p.Pro326Ser
XM_005247389.4:c.1417C>T	XP_005247446.1:p.Pro473Ser
XM_011512738.2:c.1513C>T	XP_011511040.1:p.Pro505Ser
XM_011512739.2:c.976C>T	XP_011511041.1:p.Pro326Ser
NM_001199799.2:c.1513C>T MANE Select	NP_001186728.1:p.Pro505Ser
NM_001199800.2:c.1246C>T	NP_001186729.1:p.Pro416Ser
NM_175924.4:c.1381C>T	NP_787120.1:p.Pro461Ser