Canonical Allele Identifier: CA324028

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 213899
• ClinVar RCV Id: RCV000199482 ; RCV000623797 ; RCV000696683 ; RCV000766034
• dbSNP Id: rs200018073
• gnomAD v2: 9-101900179-A-G
• gnomAD v3: 9-99137897-A-G
• gnomAD v4: 9-99137897-A-G
• MyVariant Identifiers: chr9:g.101900179A>G (hg19) ; chr9:g.99137897A>G (hg38)
• PubMed: PMID:25834947

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137897A>G , CM000671.2:g.99137897A>G	GRCh38
NC_000009.11:g.101900179A>G , CM000671.1:g.101900179A>G	GRCh37
NC_000009.10:g.100940000A>G	NCBI36
NG_007461.1:g.37768A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.406A>G	ENSP00000449934.2:p.Ile136Val
ENST00000552573.7:c.418A>G	ENSP00000447182.3:p.Ile140Val
ENST00000548365.6:c.380-4639A>G	ENSP00000448518.2:n.380-4639A>G
ENST00000549021.6:c.175A>G	ENSP00000449028.2:p.Ile59Val
ENST00000698941.1:c.418A>G	ENSP00000514048.1:p.Ile140Val
ENST00000698942.1:c.*409A>G	ENSP00000514049.1:n.*409A>G
ENST00000374994.9:c.613A>G MANE Select	ENSP00000364133.4:p.Ile205Val
ENST00000374990.6:c.382A>G	ENSP00000364129.2:p.Ile128Val
ENST00000374994.8:c.613A>G	ENSP00000364133.4:p.Ile205Val
ENST00000549021.5:c.175A>G	ENSP00000449028.1:p.Ile59Val
ENST00000549766.5:c.625A>G	ENSP00000446685.1:p.Ile209Val
ENST00000550253.1:c.406A>G	ENSP00000450052.1:p.Ile136Val
ENST00000552516.5:c.625A>G	ENSP00000447297.1:p.Ile209Val
NM_001130916.1:c.382A>G	NP_001124388.1:p.Ile128Val
NM_001130916.2:c.382A>G	NP_001124388.1:p.Ile128Val
NM_001306210.1:c.625A>G	NP_001293139.1:p.Ile209Val
NM_004612.2:c.613A>G	NP_004603.1:p.Ile205Val
NM_004612.3:c.613A>G	NP_004603.1:p.Ile205Val
XM_011518948.1:c.418A>G	XP_011517250.1:p.Ile140Val
XM_011518949.1:c.406A>G	XP_011517251.1:p.Ile136Val
XM_011518950.1:c.175A>G	XP_011517252.1:p.Ile59Val
XM_011518948.2:c.418A>G	XP_011517250.1:p.Ile140Val
XM_011518949.2:c.406A>G	XP_011517251.1:p.Ile136Val
XM_011518950.2:c.175A>G	XP_011517252.1:p.Ile59Val
XM_017015063.1:c.418A>G	XP_016870552.1:p.Ile140Val
XM_024447658.1:c.406A>G	XP_024303426.1:p.Ile136Val
NM_004612.4:c.613A>G MANE Select	NP_004603.1:p.Ile205Val
NM_001130916.3:c.382A>G	NP_001124388.1:p.Ile128Val
NM_001306210.2:c.625A>G	NP_001293139.1:p.Ile209Val