Canonical Allele Identifier: CA043294

Gene: TGFBR1

Linked Data

• dbSNP Id: rs764452904
• ExAC: 9:101904904 A / G
• gnomAD v2: 9-101904904-A-G
• gnomAD v4: 9-99142622-A-G
• MyVariant Identifiers: chr9:g.101904904A>G (hg19) ; chr9:g.99142622A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142622A>G , CM000671.2:g.99142622A>G	GRCh38
NC_000009.11:g.101904904A>G , CM000671.1:g.101904904A>G	GRCh37
NC_000009.10:g.100944725A>G	NCBI36
NG_007461.1:g.42493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.685A>G	ENSP00000449934.2:p.Thr229Ala
ENST00000552573.7:c.697A>G	ENSP00000447182.3:p.Thr233Ala
ENST00000548365.6:c.466A>G	ENSP00000448518.2:p.Thr156Ala
ENST00000549021.6:c.454A>G	ENSP00000449028.2:p.Thr152Ala
ENST00000698941.1:c.697A>G	ENSP00000514048.1:p.Thr233Ala
ENST00000698942.1:c.*688A>G	ENSP00000514049.1:n.*688A>G
ENST00000374994.9:c.892A>G MANE Select	ENSP00000364133.4:p.Thr298Ala
ENST00000374990.6:c.661A>G	ENSP00000364129.2:p.Thr221Ala
ENST00000374994.8:c.892A>G	ENSP00000364133.4:p.Thr298Ala
ENST00000549766.5:c.904A>G	ENSP00000446685.1:p.Thr302Ala
ENST00000550253.1:c.685A>G	ENSP00000450052.1:p.Thr229Ala
ENST00000552516.5:c.904A>G	ENSP00000447297.1:p.Thr302Ala
NM_001130916.1:c.661A>G	NP_001124388.1:p.Thr221Ala
NM_001130916.2:c.661A>G	NP_001124388.1:p.Thr221Ala
NM_001306210.1:c.904A>G	NP_001293139.1:p.Thr302Ala
NM_004612.2:c.892A>G	NP_004603.1:p.Thr298Ala
NM_004612.3:c.892A>G	NP_004603.1:p.Thr298Ala
XM_011518948.1:c.697A>G	XP_011517250.1:p.Thr233Ala
XM_011518949.1:c.685A>G	XP_011517251.1:p.Thr229Ala
XM_011518950.1:c.454A>G	XP_011517252.1:p.Thr152Ala
XM_011518948.2:c.697A>G	XP_011517250.1:p.Thr233Ala
XM_011518949.2:c.685A>G	XP_011517251.1:p.Thr229Ala
XM_011518950.2:c.454A>G	XP_011517252.1:p.Thr152Ala
XM_017015063.1:c.697A>G	XP_016870552.1:p.Thr233Ala
XM_024447658.1:c.685A>G	XP_024303426.1:p.Thr229Ala
NM_004612.4:c.892A>G MANE Select	NP_004603.1:p.Thr298Ala
NM_001130916.3:c.661A>G	NP_001124388.1:p.Thr221Ala
NM_001306210.2:c.904A>G	NP_001293139.1:p.Thr302Ala