Canonical Allele Identifier: CA1127255469

Gene: TGFBR1

Linked Data

• dbSNP Id: rs200529894
• gnomAD v3: 9-99151397-G-GTTTTTTTTTTT
• gnomAD v4: 9-99151397-G-GTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151400_99151410dup , CM000671.2:g.99151400_99151410dup	GRCh38
NC_000009.11:g.101913682_101913692dup , CM000671.1:g.101913682_101913692dup	GRCh37
NC_000009.10:g.100953503_100953513dup	NCBI36
NG_007461.1:g.51271_51281dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.*2095_*2105dup	ENSP00000449934.2:n.*2095_*2105dup
ENST00000552573.7:c.*2095_*2105dup	ENSP00000447182.3:n.*2095_*2105dup
ENST00000374994.9:c.*2095_*2105dup MANE Select	ENSP00000364133.4:n.*2095_*2105dup
ENST00000374990.6:c.*2095_*2105dup	ENSP00000364129.2:n.*2095_*2105dup
ENST00000374994.8:c.*2095_*2105dup	ENSP00000364133.4:n.*2095_*2105dup
ENST00000552516.5:c.*2095_*2105dup	ENSP00000447297.1:n.*2095_*2105dup
NM_001130916.1:c.*2095_*2105dup	NP_001124388.1:n.*2095_*2105dup
NM_001130916.2:c.*2095_*2105dup	NP_001124388.1:n.*2095_*2105dup
NM_001306210.1:c.*2095_*2105dup	NP_001293139.1:n.*2095_*2105dup
NM_004612.2:c.*2095_*2105dup	NP_004603.1:n.*2095_*2105dup
NM_004612.3:c.*2095_*2105dup	NP_004603.1:n.*2095_*2105dup
XM_011518948.1:c.*2095_*2105dup	XP_011517250.1:n.*2095_*2105dup
XM_011518949.1:c.*2095_*2105dup	XP_011517251.1:n.*2095_*2105dup
XM_011518950.1:c.*2095_*2105dup	XP_011517252.1:n.*2095_*2105dup
NM_004612.4:c.*2095_*2105dup MANE Select	NP_004603.1:n.*2095_*2105dup
NM_001130916.3:c.*2095_*2105dup	NP_001124388.1:n.*2095_*2105dup
NM_001306210.2:c.*2095_*2105dup	NP_001293139.1:n.*2095_*2105dup