Canonical Allele Identifier: CA374232971

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 1748068
• ClinVar RCV Id: RCV002351758
• gnomAD v4: 9-99146557-C-G
• MyVariant Identifiers: chr9:g.101908839C>G (hg19) ; chr9:g.99146557C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146557C>G , CM000671.2:g.99146557C>G	GRCh38
NC_000009.11:g.101908839C>G , CM000671.1:g.101908839C>G	GRCh37
NC_000009.10:g.100948660C>G	NCBI36
NG_007461.1:g.46428C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.996C>G	ENSP00000449934.2:p.Ile332Met
ENST00000552573.7:c.1008C>G	ENSP00000447182.3:p.Ile336Met
ENST00000548365.6:c.*125C>G	ENSP00000448518.2:n.*125C>G
ENST00000549021.6:c.765C>G	ENSP00000449028.2:p.Ile255Met
ENST00000698941.1:c.1008C>G	ENSP00000514048.1:p.Ile336Met
ENST00000698942.1:c.*999C>G	ENSP00000514049.1:n.*999C>G
ENST00000374994.9:c.1203C>G MANE Select	ENSP00000364133.4:p.Ile401Met
ENST00000374990.6:c.972C>G	ENSP00000364129.2:p.Ile324Met
ENST00000374994.8:c.1203C>G	ENSP00000364133.4:p.Ile401Met
ENST00000549766.5:c.1143-1097C>G	ENSP00000446685.1:n.1143-1097C>G
ENST00000550253.1:c.996C>G	ENSP00000450052.1:p.Ile332Met
ENST00000552516.5:c.1215C>G	ENSP00000447297.1:p.Ile405Met
NM_001130916.1:c.972C>G	NP_001124388.1:p.Ile324Met
NM_001130916.2:c.972C>G	NP_001124388.1:p.Ile324Met
NM_001306210.1:c.1215C>G	NP_001293139.1:p.Ile405Met
NM_004612.2:c.1203C>G	NP_004603.1:p.Ile401Met
NM_004612.3:c.1203C>G	NP_004603.1:p.Ile401Met
XM_011518948.1:c.1008C>G	XP_011517250.1:p.Ile336Met
XM_011518949.1:c.996C>G	XP_011517251.1:p.Ile332Met
XM_011518950.1:c.765C>G	XP_011517252.1:p.Ile255Met
XM_011518948.2:c.1008C>G	XP_011517250.1:p.Ile336Met
XM_011518949.2:c.996C>G	XP_011517251.1:p.Ile332Met
XM_011518950.2:c.765C>G	XP_011517252.1:p.Ile255Met
XM_017015063.1:c.1008C>G	XP_016870552.1:p.Ile336Met
XM_024447658.1:c.996C>G	XP_024303426.1:p.Ile332Met
NM_004612.4:c.1203C>G MANE Select	NP_004603.1:p.Ile401Met
NM_001130916.3:c.972C>G	NP_001124388.1:p.Ile324Met
NM_001306210.2:c.1215C>G	NP_001293139.1:p.Ile405Met