Canonical Allele Identifier: CA1127253527

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 1673268
• ClinVar RCV Id: RCV002213711
• dbSNP Id: rs1827799094
• gnomAD v3: 9-99146477-T-A
• gnomAD v4: 9-99146477-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146477T>A , CM000671.2:g.99146477T>A	GRCh38
NC_000009.11:g.101908759T>A , CM000671.1:g.101908759T>A	GRCh37
NC_000009.10:g.100948580T>A	NCBI36
NG_007461.1:g.46348T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.924-8T>A	ENSP00000449934.2:n.924-8T>A
ENST00000552573.7:c.936-8T>A	ENSP00000447182.3:n.936-8T>A
ENST00000548365.6:c.*53-8T>A	ENSP00000448518.2:n.*53-8T>A
ENST00000549021.6:c.693-8T>A	ENSP00000449028.2:n.693-8T>A
ENST00000698941.1:c.936-8T>A	ENSP00000514048.1:n.936-8T>A
ENST00000698942.1:c.*927-8T>A	ENSP00000514049.1:n.*927-8T>A
ENST00000374994.9:c.1131-8T>A MANE Select	ENSP00000364133.4:n.1131-8T>A
ENST00000374990.6:c.900-8T>A	ENSP00000364129.2:n.900-8T>A
ENST00000374994.8:c.1131-8T>A	ENSP00000364133.4:n.1131-8T>A
ENST00000549766.5:c.1143-1177T>A	ENSP00000446685.1:n.1143-1177T>A
ENST00000550253.1:c.924-8T>A	ENSP00000450052.1:n.924-8T>A
ENST00000552516.5:c.1143-8T>A	ENSP00000447297.1:n.1143-8T>A
NM_001130916.1:c.900-8T>A	NP_001124388.1:n.900-8T>A
NM_001130916.2:c.900-8T>A	NP_001124388.1:n.900-8T>A
NM_001306210.1:c.1143-8T>A	NP_001293139.1:n.1143-8T>A
NM_004612.2:c.1131-8T>A	NP_004603.1:n.1131-8T>A
NM_004612.3:c.1131-8T>A	NP_004603.1:n.1131-8T>A
XM_011518948.1:c.936-8T>A	XP_011517250.1:n.936-8T>A
XM_011518949.1:c.924-8T>A	XP_011517251.1:n.924-8T>A
XM_011518950.1:c.693-8T>A	XP_011517252.1:n.693-8T>A
XM_011518948.2:c.936-8T>A	XP_011517250.1:n.936-8T>A
XM_011518949.2:c.924-8T>A	XP_011517251.1:n.924-8T>A
XM_011518950.2:c.693-8T>A	XP_011517252.1:n.693-8T>A
XM_017015063.1:c.936-8T>A	XP_016870552.1:n.936-8T>A
XM_024447658.1:c.924-8T>A	XP_024303426.1:n.924-8T>A
NM_004612.4:c.1131-8T>A MANE Select	NP_004603.1:n.1131-8T>A
NM_001130916.3:c.900-8T>A	NP_001124388.1:n.900-8T>A
NM_001306210.2:c.1143-8T>A	NP_001293139.1:n.1143-8T>A