Canonical Allele Identifier: CA2690965841

Gene: TGFBR1

Linked Data

• dbSNP Id: rs898769199
• gnomAD v4: 9-99137837-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137837T>C , CM000671.2:g.99137837T>C	GRCh38
NC_000009.11:g.101900119T>C , CM000671.1:g.101900119T>C	GRCh37
NC_000009.10:g.100939940T>C	NCBI36
NG_007461.1:g.37708T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.368-22T>C	ENSP00000449934.2:n.368-22T>C
ENST00000552573.7:c.380-22T>C	ENSP00000447182.3:n.380-22T>C
ENST00000548365.6:c.380-4699T>C	ENSP00000448518.2:n.380-4699T>C
ENST00000549021.6:c.137-22T>C	ENSP00000449028.2:n.137-22T>C
ENST00000698941.1:c.380-22T>C	ENSP00000514048.1:n.380-22T>C
ENST00000698942.1:c.*371-22T>C	ENSP00000514049.1:n.*371-22T>C
ENST00000374994.9:c.575-22T>C MANE Select	ENSP00000364133.4:n.575-22T>C
ENST00000374990.6:c.344-22T>C	ENSP00000364129.2:n.344-22T>C
ENST00000374994.8:c.575-22T>C	ENSP00000364133.4:n.575-22T>C
ENST00000549021.5:c.137-22T>C	ENSP00000449028.1:n.137-22T>C
ENST00000549766.5:c.587-22T>C	ENSP00000446685.1:n.587-22T>C
ENST00000550253.1:c.368-22T>C	ENSP00000450052.1:n.368-22T>C
ENST00000552516.5:c.587-22T>C	ENSP00000447297.1:n.587-22T>C
NM_001130916.1:c.344-22T>C	NP_001124388.1:n.344-22T>C
NM_001130916.2:c.344-22T>C	NP_001124388.1:n.344-22T>C
NM_001306210.1:c.587-22T>C	NP_001293139.1:n.587-22T>C
NM_004612.2:c.575-22T>C	NP_004603.1:n.575-22T>C
NM_004612.3:c.575-22T>C	NP_004603.1:n.575-22T>C
XM_011518948.1:c.380-22T>C	XP_011517250.1:n.380-22T>C
XM_011518949.1:c.368-22T>C	XP_011517251.1:n.368-22T>C
XM_011518950.1:c.137-22T>C	XP_011517252.1:n.137-22T>C
XM_011518948.2:c.380-22T>C	XP_011517250.1:n.380-22T>C
XM_011518949.2:c.368-22T>C	XP_011517251.1:n.368-22T>C
XM_011518950.2:c.137-22T>C	XP_011517252.1:n.137-22T>C
XM_017015063.1:c.380-22T>C	XP_016870552.1:n.380-22T>C
XM_024447658.1:c.368-22T>C	XP_024303426.1:n.368-22T>C
NM_004612.4:c.575-22T>C MANE Select	NP_004603.1:n.575-22T>C
NM_001130916.3:c.344-22T>C	NP_001124388.1:n.344-22T>C
NM_001306210.2:c.587-22T>C	NP_001293139.1:n.587-22T>C