Canonical Allele Identifier: CA374230611

Gene: TGFBR1

Linked Data

• gnomAD v4: 9-99142593-T-A
• MyVariant Identifiers: chr9:g.101904875T>A (hg19) ; chr9:g.99142593T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142593T>A , CM000671.2:g.99142593T>A	GRCh38
NC_000009.11:g.101904875T>A , CM000671.1:g.101904875T>A	GRCh37
NC_000009.10:g.100944696T>A	NCBI36
NG_007461.1:g.42464T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.656T>A	ENSP00000449934.2:p.Leu219His
ENST00000552573.7:c.668T>A	ENSP00000447182.3:p.Leu223His
ENST00000548365.6:c.437T>A	ENSP00000448518.2:p.Leu146His
ENST00000549021.6:c.425T>A	ENSP00000449028.2:p.Leu142His
ENST00000698941.1:c.668T>A	ENSP00000514048.1:p.Leu223His
ENST00000698942.1:c.*659T>A	ENSP00000514049.1:n.*659T>A
ENST00000374994.9:c.863T>A MANE Select	ENSP00000364133.4:p.Leu288His
ENST00000374990.6:c.632T>A	ENSP00000364129.2:p.Leu211His
ENST00000374994.8:c.863T>A	ENSP00000364133.4:p.Leu288His
ENST00000549766.5:c.875T>A	ENSP00000446685.1:p.Leu292His
ENST00000550253.1:c.656T>A	ENSP00000450052.1:p.Leu219His
ENST00000552516.5:c.875T>A	ENSP00000447297.1:p.Leu292His
NM_001130916.1:c.632T>A	NP_001124388.1:p.Leu211His
NM_001130916.2:c.632T>A	NP_001124388.1:p.Leu211His
NM_001306210.1:c.875T>A	NP_001293139.1:p.Leu292His
NM_004612.2:c.863T>A	NP_004603.1:p.Leu288His
NM_004612.3:c.863T>A	NP_004603.1:p.Leu288His
XM_011518948.1:c.668T>A	XP_011517250.1:p.Leu223His
XM_011518949.1:c.656T>A	XP_011517251.1:p.Leu219His
XM_011518950.1:c.425T>A	XP_011517252.1:p.Leu142His
XM_011518948.2:c.668T>A	XP_011517250.1:p.Leu223His
XM_011518949.2:c.656T>A	XP_011517251.1:p.Leu219His
XM_011518950.2:c.425T>A	XP_011517252.1:p.Leu142His
XM_017015063.1:c.668T>A	XP_016870552.1:p.Leu223His
XM_024447658.1:c.656T>A	XP_024303426.1:p.Leu219His
NM_004612.4:c.863T>A MANE Select	NP_004603.1:p.Leu288His
NM_001130916.3:c.632T>A	NP_001124388.1:p.Leu211His
NM_001306210.2:c.875T>A	NP_001293139.1:p.Leu292His