Canonical Allele Identifier: CA374232937

Gene: TGFBR1

Linked Data

• dbSNP Id: rs1290088574
• MyVariant Identifiers: chr9:g.101908831G>A (hg19) ; chr9:g.99146549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146549G>A , CM000671.2:g.99146549G>A	GRCh38
NC_000009.11:g.101908831G>A , CM000671.1:g.101908831G>A	GRCh37
NC_000009.10:g.100948652G>A	NCBI36
NG_007461.1:g.46420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.988G>A	ENSP00000449934.2:p.Ala330Thr
ENST00000552573.7:c.1000G>A	ENSP00000447182.3:p.Ala334Thr
ENST00000548365.6:c.*117G>A	ENSP00000448518.2:n.*117G>A
ENST00000549021.6:c.757G>A	ENSP00000449028.2:p.Ala253Thr
ENST00000698941.1:c.1000G>A	ENSP00000514048.1:p.Ala334Thr
ENST00000698942.1:c.*991G>A	ENSP00000514049.1:n.*991G>A
ENST00000374994.9:c.1195G>A MANE Select	ENSP00000364133.4:p.Ala399Thr
ENST00000374990.6:c.964G>A	ENSP00000364129.2:p.Ala322Thr
ENST00000374994.8:c.1195G>A	ENSP00000364133.4:p.Ala399Thr
ENST00000549766.5:c.1143-1105G>A	ENSP00000446685.1:n.1143-1105G>A
ENST00000550253.1:c.988G>A	ENSP00000450052.1:p.Ala330Thr
ENST00000552516.5:c.1207G>A	ENSP00000447297.1:p.Ala403Thr
NM_001130916.1:c.964G>A	NP_001124388.1:p.Ala322Thr
NM_001130916.2:c.964G>A	NP_001124388.1:p.Ala322Thr
NM_001306210.1:c.1207G>A	NP_001293139.1:p.Ala403Thr
NM_004612.2:c.1195G>A	NP_004603.1:p.Ala399Thr
NM_004612.3:c.1195G>A	NP_004603.1:p.Ala399Thr
XM_011518948.1:c.1000G>A	XP_011517250.1:p.Ala334Thr
XM_011518949.1:c.988G>A	XP_011517251.1:p.Ala330Thr
XM_011518950.1:c.757G>A	XP_011517252.1:p.Ala253Thr
XM_011518948.2:c.1000G>A	XP_011517250.1:p.Ala334Thr
XM_011518949.2:c.988G>A	XP_011517251.1:p.Ala330Thr
XM_011518950.2:c.757G>A	XP_011517252.1:p.Ala253Thr
XM_017015063.1:c.1000G>A	XP_016870552.1:p.Ala334Thr
XM_024447658.1:c.988G>A	XP_024303426.1:p.Ala330Thr
NM_004612.4:c.1195G>A MANE Select	NP_004603.1:p.Ala399Thr
NM_001130916.3:c.964G>A	NP_001124388.1:p.Ala322Thr
NM_001306210.2:c.1207G>A	NP_001293139.1:p.Ala403Thr