Canonical Allele Identifier: CA008776

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 12525
• ClinVar RCV Id: RCV000013351 ; RCV000196834 ; RCV000211857 ; RCV000463090 ; RCV001194075
• dbSNP Id: rs113605875
• gnomAD v3: 9-99149253-G-A
• gnomAD v4: 9-99149253-G-A
• COSMIC: COSM1635939
• MyVariant Identifiers: chr9:g.101911535G>A (hg19) ; chr9:g.99149253G>A (hg38)
• PubMed: PMID:16791849 ; PMID:16928994 ; PMID:18455604 ; PMID:21267002 ; PMID:21358634 ; PMID:22113417

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99149253G>A , CM000671.2:g.99149253G>A	GRCh38
NC_000009.11:g.101911535G>A , CM000671.1:g.101911535G>A	GRCh37
NC_000009.10:g.100951356G>A	NCBI36
NG_007461.1:g.49124G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.1253G>A	ENSP00000449934.2:p.Arg418Gln
ENST00000552573.7:c.1265G>A	ENSP00000447182.3:p.Arg422Gln
ENST00000548365.6:c.*382G>A	ENSP00000448518.2:n.*382G>A
ENST00000549021.6:c.1022G>A	ENSP00000449028.2:p.Arg341Gln
ENST00000698941.1:c.1265G>A	ENSP00000514048.1:p.Arg422Gln
ENST00000698942.1:c.*1256G>A	ENSP00000514049.1:n.*1256G>A
ENST00000698943.1:n.1027G>A
ENST00000374994.9:c.1460G>A MANE Select	ENSP00000364133.4:p.Arg487Gln
ENST00000374990.6:c.1229G>A	ENSP00000364129.2:p.Arg410Gln
ENST00000374994.8:c.1460G>A	ENSP00000364133.4:p.Arg487Gln
ENST00000549766.5:c.*195G>A	ENSP00000446685.1:n.*195G>A
ENST00000550253.1:c.1253G>A	ENSP00000450052.1:p.Arg418Gln
ENST00000552516.5:c.1472G>A	ENSP00000447297.1:p.Arg491Gln
NM_001130916.1:c.1229G>A	NP_001124388.1:p.Arg410Gln
NM_001130916.2:c.1229G>A	NP_001124388.1:p.Arg410Gln
NM_001306210.1:c.1472G>A	NP_001293139.1:p.Arg491Gln
NM_004612.2:c.1460G>A	NP_004603.1:p.Arg487Gln
NM_004612.3:c.1460G>A	NP_004603.1:p.Arg487Gln
XM_011518948.1:c.1265G>A	XP_011517250.1:p.Arg422Gln
XM_011518949.1:c.1253G>A	XP_011517251.1:p.Arg418Gln
XM_011518950.1:c.1022G>A	XP_011517252.1:p.Arg341Gln
XM_011518948.2:c.1265G>A	XP_011517250.1:p.Arg422Gln
XM_011518949.2:c.1253G>A	XP_011517251.1:p.Arg418Gln
XM_011518950.2:c.1022G>A	XP_011517252.1:p.Arg341Gln
XM_017015063.1:c.1265G>A	XP_016870552.1:p.Arg422Gln
XM_024447658.1:c.1253G>A	XP_024303426.1:p.Arg418Gln
NM_004612.4:c.1460G>A MANE Select	NP_004603.1:p.Arg487Gln
NM_001130916.3:c.1229G>A	NP_001124388.1:p.Arg410Gln
NM_001306210.2:c.1472G>A	NP_001293139.1:p.Arg491Gln