Canonical Allele Identifier: CA2690966999

Gene: TGFBR1

Linked Data

• gnomAD v4: 9-99149723-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99149723G>A , CM000671.2:g.99149723G>A	GRCh38
NC_000009.11:g.101912005G>A , CM000671.1:g.101912005G>A	GRCh37
NC_000009.10:g.100951826G>A	NCBI36
NG_007461.1:g.49594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.*418G>A	ENSP00000449934.2:n.*418G>A
ENST00000552573.7:c.*418G>A	ENSP00000447182.3:n.*418G>A
ENST00000698941.1:c.*418G>A	ENSP00000514048.1:n.*418G>A
ENST00000698943.1:n.1497G>A
ENST00000374994.9:c.*418G>A MANE Select	ENSP00000364133.4:n.*418G>A
ENST00000374990.6:c.*418G>A	ENSP00000364129.2:n.*418G>A
ENST00000374994.8:c.*418G>A	ENSP00000364133.4:n.*418G>A
ENST00000552516.5:c.*418G>A	ENSP00000447297.1:n.*418G>A
NM_001130916.1:c.*418G>A	NP_001124388.1:n.*418G>A
NM_001130916.2:c.*418G>A	NP_001124388.1:n.*418G>A
NM_001306210.1:c.*418G>A	NP_001293139.1:n.*418G>A
NM_004612.2:c.*418G>A	NP_004603.1:n.*418G>A
NM_004612.3:c.*418G>A	NP_004603.1:n.*418G>A
XM_011518948.1:c.*418G>A	XP_011517250.1:n.*418G>A
XM_011518949.1:c.*418G>A	XP_011517251.1:n.*418G>A
XM_011518950.1:c.*418G>A	XP_011517252.1:n.*418G>A
XM_011518948.2:c.*418G>A	XP_011517250.1:n.*418G>A
XM_011518949.2:c.*418G>A	XP_011517251.1:n.*418G>A
XM_011518950.2:c.*418G>A	XP_011517252.1:n.*418G>A
XM_017015063.1:c.*418G>A	XP_016870552.1:n.*418G>A
XM_024447658.1:c.*418G>A	XP_024303426.1:n.*418G>A
NM_004612.4:c.*418G>A MANE Select	NP_004603.1:n.*418G>A
NM_001130916.3:c.*418G>A	NP_001124388.1:n.*418G>A
NM_001306210.2:c.*418G>A	NP_001293139.1:n.*418G>A