Canonical Allele Identifier: CA2690968205

Gene: TGFBR1

Linked Data

• gnomAD v4: 9-99152813-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99152813G>T , CM000671.2:g.99152813G>T	GRCh38
NC_000009.11:g.101915095G>T , CM000671.1:g.101915095G>T	GRCh37
NC_000009.10:g.100954916G>T	NCBI36
NG_007461.1:g.52684G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*3508G>T	ENSP00000449934.2:n.*3508G>T
ENST00000552573.7:c.*3508G>T	ENSP00000447182.3:n.*3508G>T
ENST00000374994.9:c.*3508G>T MANE Select	ENSP00000364133.4:n.*3508G>T
ENST00000374990.6:c.*3508G>T	ENSP00000364129.2:n.*3508G>T
ENST00000374994.8:c.*3508G>T	ENSP00000364133.4:n.*3508G>T
ENST00000552516.5:c.*3508G>T	ENSP00000447297.1:n.*3508G>T
NM_001130916.1:c.*3508G>T	NP_001124388.1:n.*3508G>T
NM_001130916.2:c.*3508G>T	NP_001124388.1:n.*3508G>T
NM_001306210.1:c.*3508G>T	NP_001293139.1:n.*3508G>T
NM_004612.2:c.*3508G>T	NP_004603.1:n.*3508G>T
NM_004612.3:c.*3508G>T	NP_004603.1:n.*3508G>T
XM_011518948.1:c.*3508G>T	XP_011517250.1:n.*3508G>T
XM_011518949.1:c.*3508G>T	XP_011517251.1:n.*3508G>T
XM_011518950.1:c.*3508G>T	XP_011517252.1:n.*3508G>T
NM_004612.4:c.*3508G>T MANE Select	NP_004603.1:n.*3508G>T
NM_001130916.3:c.*3508G>T	NP_001124388.1:n.*3508G>T
NM_001306210.2:c.*3508G>T	NP_001293139.1:n.*3508G>T