Canonical Allele Identifier: CA008529

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 161393
• ClinVar RCV Id: RCV000148890 ; RCV000199866 ; RCV000229867 ; RCV000726645
• dbSNP Id: rs141259922
• ExAC: 9:101911508 A / G
• gnomAD v2: 9-101911508-A-G
• gnomAD v3: 9-99149226-A-G
• gnomAD v4: 9-99149226-A-G
• MyVariant Identifiers: chr9:g.101911508A>G (hg19) ; chr9:g.99149226A>G (hg38)
• PubMed: PMID:16928994 ; PMID:24055113

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99149226A>G , CM000671.2:g.99149226A>G	GRCh38
NC_000009.11:g.101911508A>G , CM000671.1:g.101911508A>G	GRCh37
NC_000009.10:g.100951329A>G	NCBI36
NG_007461.1:g.49097A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.1226A>G	ENSP00000449934.2:p.Asn409Ser
ENST00000552573.7:c.1238A>G	ENSP00000447182.3:p.Asn413Ser
ENST00000548365.6:c.*355A>G	ENSP00000448518.2:n.*355A>G
ENST00000549021.6:c.995A>G	ENSP00000449028.2:p.Asn332Ser
ENST00000698941.1:c.1238A>G	ENSP00000514048.1:p.Asn413Ser
ENST00000698942.1:c.*1229A>G	ENSP00000514049.1:n.*1229A>G
ENST00000698943.1:n.1000A>G
ENST00000374994.9:c.1433A>G MANE Select	ENSP00000364133.4:p.Asn478Ser
ENST00000374990.6:c.1202A>G	ENSP00000364129.2:p.Asn401Ser
ENST00000374994.8:c.1433A>G	ENSP00000364133.4:p.Asn478Ser
ENST00000549766.5:c.*168A>G	ENSP00000446685.1:n.*168A>G
ENST00000550253.1:c.1226A>G	ENSP00000450052.1:p.Asn409Ser
ENST00000552516.5:c.1445A>G	ENSP00000447297.1:p.Asn482Ser
NM_001130916.1:c.1202A>G	NP_001124388.1:p.Asn401Ser
NM_001130916.2:c.1202A>G	NP_001124388.1:p.Asn401Ser
NM_001306210.1:c.1445A>G	NP_001293139.1:p.Asn482Ser
NM_004612.2:c.1433A>G	NP_004603.1:p.Asn478Ser
NM_004612.3:c.1433A>G	NP_004603.1:p.Asn478Ser
XM_011518948.1:c.1238A>G	XP_011517250.1:p.Asn413Ser
XM_011518949.1:c.1226A>G	XP_011517251.1:p.Asn409Ser
XM_011518950.1:c.995A>G	XP_011517252.1:p.Asn332Ser
XM_011518948.2:c.1238A>G	XP_011517250.1:p.Asn413Ser
XM_011518949.2:c.1226A>G	XP_011517251.1:p.Asn409Ser
XM_011518950.2:c.995A>G	XP_011517252.1:p.Asn332Ser
XM_017015063.1:c.1238A>G	XP_016870552.1:p.Asn413Ser
XM_024447658.1:c.1226A>G	XP_024303426.1:p.Asn409Ser
NM_004612.4:c.1433A>G MANE Select	NP_004603.1:p.Asn478Ser
NM_001130916.3:c.1202A>G	NP_001124388.1:p.Asn401Ser
NM_001306210.2:c.1445A>G	NP_001293139.1:p.Asn482Ser