Canonical Allele Identifier: CA466434211

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 741849
• ClinVar RCV Id: RCV001410420 ; RCV003396546 ; RCV004003177
• dbSNP Id: rs1325342802
• gnomAD v2: 9-101900271-C-G
• gnomAD v4: 9-99137989-C-G
• MyVariant Identifiers: chr9:g.101900271C>G (hg19) ; chr9:g.99137989C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137989C>G , CM000671.2:g.99137989C>G	GRCh38
NC_000009.11:g.101900271C>G , CM000671.1:g.101900271C>G	GRCh37
NC_000009.10:g.100940092C>G	NCBI36
NG_007461.1:g.37860C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.498C>G	ENSP00000449934.2:p.Ser166=
ENST00000552573.7:c.510C>G	ENSP00000447182.3:p.Ser170=
ENST00000548365.6:c.380-4547C>G	ENSP00000448518.2:n.380-4547C>G
ENST00000549021.6:c.267C>G	ENSP00000449028.2:p.Ser89=
ENST00000698941.1:c.510C>G	ENSP00000514048.1:p.Ser170=
ENST00000698942.1:c.*501C>G	ENSP00000514049.1:n.*501C>G
ENST00000374994.9:c.705C>G MANE Select	ENSP00000364133.4:p.Ser235=
ENST00000374990.6:c.474C>G	ENSP00000364129.2:p.Ser158=
ENST00000374994.8:c.705C>G	ENSP00000364133.4:p.Ser235=
ENST00000549021.5:c.267C>G	ENSP00000449028.1:p.Ser89=
ENST00000549766.5:c.717C>G	ENSP00000446685.1:p.Ser239=
ENST00000550253.1:c.498C>G	ENSP00000450052.1:p.Ser166=
ENST00000552516.5:c.717C>G	ENSP00000447297.1:p.Ser239=
NM_001130916.1:c.474C>G	NP_001124388.1:p.Ser158=
NM_001130916.2:c.474C>G	NP_001124388.1:p.Ser158=
NM_001306210.1:c.717C>G	NP_001293139.1:p.Ser239=
NM_004612.2:c.705C>G	NP_004603.1:p.Ser235=
NM_004612.3:c.705C>G	NP_004603.1:p.Ser235=
XM_011518948.1:c.510C>G	XP_011517250.1:p.Ser170=
XM_011518949.1:c.498C>G	XP_011517251.1:p.Ser166=
XM_011518950.1:c.267C>G	XP_011517252.1:p.Ser89=
XM_011518948.2:c.510C>G	XP_011517250.1:p.Ser170=
XM_011518949.2:c.498C>G	XP_011517251.1:p.Ser166=
XM_011518950.2:c.267C>G	XP_011517252.1:p.Ser89=
XM_017015063.1:c.510C>G	XP_016870552.1:p.Ser170=
XM_024447658.1:c.498C>G	XP_024303426.1:p.Ser166=
NM_004612.4:c.705C>G MANE Select	NP_004603.1:p.Ser235=
NM_001130916.3:c.474C>G	NP_001124388.1:p.Ser158=
NM_001306210.2:c.717C>G	NP_001293139.1:p.Ser239=