Canonical Allele Identifier: CA374229746

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 2089288
• ClinVar RCV Id: RCV003020424
• MyVariant Identifiers: chr9:g.101900272T>C (hg19) ; chr9:g.99137990T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137990T>C , CM000671.2:g.99137990T>C	GRCh38
NC_000009.11:g.101900272T>C , CM000671.1:g.101900272T>C	GRCh37
NC_000009.10:g.100940093T>C	NCBI36
NG_007461.1:g.37861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.499T>C	ENSP00000449934.2:p.Ser167Pro
ENST00000552573.7:c.511T>C	ENSP00000447182.3:p.Ser171Pro
ENST00000548365.6:c.380-4546T>C	ENSP00000448518.2:n.380-4546T>C
ENST00000549021.6:c.268T>C	ENSP00000449028.2:p.Ser90Pro
ENST00000698941.1:c.511T>C	ENSP00000514048.1:p.Ser171Pro
ENST00000698942.1:c.*502T>C	ENSP00000514049.1:n.*502T>C
ENST00000374994.9:c.706T>C MANE Select	ENSP00000364133.4:p.Ser236Pro
ENST00000374990.6:c.475T>C	ENSP00000364129.2:p.Ser159Pro
ENST00000374994.8:c.706T>C	ENSP00000364133.4:p.Ser236Pro
ENST00000549021.5:c.268T>C	ENSP00000449028.1:p.Ser90Pro
ENST00000549766.5:c.718T>C	ENSP00000446685.1:p.Ser240Pro
ENST00000550253.1:c.499T>C	ENSP00000450052.1:p.Ser167Pro
ENST00000552516.5:c.718T>C	ENSP00000447297.1:p.Ser240Pro
NM_001130916.1:c.475T>C	NP_001124388.1:p.Ser159Pro
NM_001130916.2:c.475T>C	NP_001124388.1:p.Ser159Pro
NM_001306210.1:c.718T>C	NP_001293139.1:p.Ser240Pro
NM_004612.2:c.706T>C	NP_004603.1:p.Ser236Pro
NM_004612.3:c.706T>C	NP_004603.1:p.Ser236Pro
XM_011518948.1:c.511T>C	XP_011517250.1:p.Ser171Pro
XM_011518949.1:c.499T>C	XP_011517251.1:p.Ser167Pro
XM_011518950.1:c.268T>C	XP_011517252.1:p.Ser90Pro
XM_011518948.2:c.511T>C	XP_011517250.1:p.Ser171Pro
XM_011518949.2:c.499T>C	XP_011517251.1:p.Ser167Pro
XM_011518950.2:c.268T>C	XP_011517252.1:p.Ser90Pro
XM_017015063.1:c.511T>C	XP_016870552.1:p.Ser171Pro
XM_024447658.1:c.499T>C	XP_024303426.1:p.Ser167Pro
NM_004612.4:c.706T>C MANE Select	NP_004603.1:p.Ser236Pro
NM_001130916.3:c.475T>C	NP_001124388.1:p.Ser159Pro
NM_001306210.2:c.718T>C	NP_001293139.1:p.Ser240Pro