Canonical Allele Identifier: CA466434517

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 3069348
• ClinVar RCV Id: RCV004007892
• gnomAD v4: 9-99142669-T-C
• MyVariant Identifiers: chr9:g.101904951T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142669T>C , CM000671.2:g.99142669T>C	GRCh38
NC_000009.11:g.101904951T>C , CM000671.1:g.101904951T>C	GRCh37
NC_000009.10:g.100944772T>C	NCBI36
NG_007461.1:g.42540T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.732T>C	ENSP00000449934.2:p.Leu244=
ENST00000552573.7:c.744T>C	ENSP00000447182.3:p.Leu248=
ENST00000548365.6:c.513T>C	ENSP00000448518.2:p.Leu171=
ENST00000549021.6:c.501T>C	ENSP00000449028.2:p.Leu167=
ENST00000698941.1:c.744T>C	ENSP00000514048.1:p.Leu248=
ENST00000698942.1:c.*735T>C	ENSP00000514049.1:n.*735T>C
ENST00000374994.9:c.939T>C MANE Select	ENSP00000364133.4:p.Leu313=
ENST00000374990.6:c.708T>C	ENSP00000364129.2:p.Leu236=
ENST00000374994.8:c.939T>C	ENSP00000364133.4:p.Leu313=
ENST00000549766.5:c.951T>C	ENSP00000446685.1:p.Leu317=
ENST00000550253.1:c.732T>C	ENSP00000450052.1:p.Leu244=
ENST00000552516.5:c.951T>C	ENSP00000447297.1:p.Leu317=
NM_001130916.1:c.708T>C	NP_001124388.1:p.Leu236=
NM_001130916.2:c.708T>C	NP_001124388.1:p.Leu236=
NM_001306210.1:c.951T>C	NP_001293139.1:p.Leu317=
NM_004612.2:c.939T>C	NP_004603.1:p.Leu313=
NM_004612.3:c.939T>C	NP_004603.1:p.Leu313=
XM_011518948.1:c.744T>C	XP_011517250.1:p.Leu248=
XM_011518949.1:c.732T>C	XP_011517251.1:p.Leu244=
XM_011518950.1:c.501T>C	XP_011517252.1:p.Leu167=
XM_011518948.2:c.744T>C	XP_011517250.1:p.Leu248=
XM_011518949.2:c.732T>C	XP_011517251.1:p.Leu244=
XM_011518950.2:c.501T>C	XP_011517252.1:p.Leu167=
XM_017015063.1:c.744T>C	XP_016870552.1:p.Leu248=
XM_024447658.1:c.732T>C	XP_024303426.1:p.Leu244=
NM_004612.4:c.939T>C MANE Select	NP_004603.1:p.Leu313=
NM_001130916.3:c.708T>C	NP_001124388.1:p.Leu236=
NM_001306210.2:c.951T>C	NP_001293139.1:p.Leu317=