Canonical Allele Identifier: CA044656

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 520226
• ClinVar RCV Id: RCV000660316 ; RCV004002735
• dbSNP Id: rs200062984
• ExAC: 9:101908852 T / A
• gnomAD v2: 9-101908852-T-A
• gnomAD v3: 9-99146570-T-A
• gnomAD v4: 9-99146570-T-A
• MyVariant Identifiers: chr9:g.101908852T>A (hg19) ; chr9:g.99146570T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146570T>A , CM000671.2:g.99146570T>A	GRCh38
NC_000009.11:g.101908852T>A , CM000671.1:g.101908852T>A	GRCh37
NC_000009.10:g.100948673T>A	NCBI36
NG_007461.1:g.46441T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.1009T>A	ENSP00000449934.2:p.Leu337Ile
ENST00000552573.7:c.1021T>A	ENSP00000447182.3:p.Leu341Ile
ENST00000548365.6:c.*138T>A	ENSP00000448518.2:n.*138T>A
ENST00000549021.6:c.778T>A	ENSP00000449028.2:p.Leu260Ile
ENST00000698941.1:c.1021T>A	ENSP00000514048.1:p.Leu341Ile
ENST00000698942.1:c.*1012T>A	ENSP00000514049.1:n.*1012T>A
ENST00000374994.9:c.1216T>A MANE Select	ENSP00000364133.4:p.Leu406Ile
ENST00000374990.6:c.985T>A	ENSP00000364129.2:p.Leu329Ile
ENST00000374994.8:c.1216T>A	ENSP00000364133.4:p.Leu406Ile
ENST00000549766.5:c.1143-1084T>A	ENSP00000446685.1:n.1143-1084T>A
ENST00000550253.1:c.1009T>A	ENSP00000450052.1:p.Leu337Ile
ENST00000552516.5:c.1228T>A	ENSP00000447297.1:p.Leu410Ile
NM_001130916.1:c.985T>A	NP_001124388.1:p.Leu329Ile
NM_001130916.2:c.985T>A	NP_001124388.1:p.Leu329Ile
NM_001306210.1:c.1228T>A	NP_001293139.1:p.Leu410Ile
NM_004612.2:c.1216T>A	NP_004603.1:p.Leu406Ile
NM_004612.3:c.1216T>A	NP_004603.1:p.Leu406Ile
XM_011518948.1:c.1021T>A	XP_011517250.1:p.Leu341Ile
XM_011518949.1:c.1009T>A	XP_011517251.1:p.Leu337Ile
XM_011518950.1:c.778T>A	XP_011517252.1:p.Leu260Ile
XM_011518948.2:c.1021T>A	XP_011517250.1:p.Leu341Ile
XM_011518949.2:c.1009T>A	XP_011517251.1:p.Leu337Ile
XM_011518950.2:c.778T>A	XP_011517252.1:p.Leu260Ile
XM_017015063.1:c.1021T>A	XP_016870552.1:p.Leu341Ile
XM_024447658.1:c.1009T>A	XP_024303426.1:p.Leu337Ile
NM_004612.4:c.1216T>A MANE Select	NP_004603.1:p.Leu406Ile
NM_001130916.3:c.985T>A	NP_001124388.1:p.Leu329Ile
NM_001306210.2:c.1228T>A	NP_001293139.1:p.Leu410Ile