Canonical Allele Identifier: CA196893001

Gene: TGFBR1

Linked Data

• dbSNP Id: rs113786548
• MyVariant Identifiers: chr9:g.101907080G>A (hg19) ; chr9:g.99144798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99144798G>A , CM000671.2:g.99144798G>A	GRCh38
NC_000009.11:g.101907080G>A , CM000671.1:g.101907080G>A	GRCh37
NC_000009.10:g.100946901G>A	NCBI36
NG_007461.1:g.44669G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.833G>A	ENSP00000449934.2:p.Cys278Tyr
ENST00000552573.7:c.845G>A	ENSP00000447182.3:p.Cys282Tyr
ENST00000548365.6:c.614G>A	ENSP00000448518.2:p.Cys205Tyr
ENST00000549021.6:c.602G>A	ENSP00000449028.2:p.Cys201Tyr
ENST00000698941.1:c.845G>A	ENSP00000514048.1:p.Cys282Tyr
ENST00000698942.1:c.*836G>A	ENSP00000514049.1:n.*836G>A
ENST00000374994.9:c.1040G>A MANE Select	ENSP00000364133.4:p.Cys347Tyr
ENST00000374990.6:c.809G>A	ENSP00000364129.2:p.Cys270Tyr
ENST00000374994.8:c.1040G>A	ENSP00000364133.4:p.Cys347Tyr
ENST00000549766.5:c.1052G>A	ENSP00000446685.1:p.Cys351Tyr
ENST00000550253.1:c.833G>A	ENSP00000450052.1:p.Cys278Tyr
ENST00000552516.5:c.1052G>A	ENSP00000447297.1:p.Cys351Tyr
NM_001130916.1:c.809G>A	NP_001124388.1:p.Cys270Tyr
NM_001130916.2:c.809G>A	NP_001124388.1:p.Cys270Tyr
NM_001306210.1:c.1052G>A	NP_001293139.1:p.Cys351Tyr
NM_004612.2:c.1040G>A	NP_004603.1:p.Cys347Tyr
NM_004612.3:c.1040G>A	NP_004603.1:p.Cys347Tyr
XM_011518948.1:c.845G>A	XP_011517250.1:p.Cys282Tyr
XM_011518949.1:c.833G>A	XP_011517251.1:p.Cys278Tyr
XM_011518950.1:c.602G>A	XP_011517252.1:p.Cys201Tyr
XM_011518948.2:c.845G>A	XP_011517250.1:p.Cys282Tyr
XM_011518949.2:c.833G>A	XP_011517251.1:p.Cys278Tyr
XM_011518950.2:c.602G>A	XP_011517252.1:p.Cys201Tyr
XM_017015063.1:c.845G>A	XP_016870552.1:p.Cys282Tyr
XM_024447658.1:c.833G>A	XP_024303426.1:p.Cys278Tyr
NM_004612.4:c.1040G>A MANE Select	NP_004603.1:p.Cys347Tyr
NM_001130916.3:c.809G>A	NP_001124388.1:p.Cys270Tyr
NM_001306210.2:c.1052G>A	NP_001293139.1:p.Cys351Tyr