Canonical Allele Identifier: CA043369

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 940612
• ClinVar RCV Id: RCV001210233 ; RCV002484139 ; RCV004010679
• dbSNP Id: rs200518416
• ExAC: 9:101904938 C / T
• gnomAD v2: 9-101904938-C-T
• gnomAD v3: 9-99142656-C-T
• gnomAD v4: 9-99142656-C-T
• MyVariant Identifiers: chr9:g.101904938C>T (hg19) ; chr9:g.99142656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142656C>T , CM000671.2:g.99142656C>T	GRCh38
NC_000009.11:g.101904938C>T , CM000671.1:g.101904938C>T	GRCh37
NC_000009.10:g.100944759C>T	NCBI36
NG_007461.1:g.42527C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.719C>T	ENSP00000449934.2:p.Thr240Met
ENST00000552573.7:c.731C>T	ENSP00000447182.3:p.Thr244Met
ENST00000548365.6:c.500C>T	ENSP00000448518.2:p.Thr167Met
ENST00000549021.6:c.488C>T	ENSP00000449028.2:p.Thr163Met
ENST00000698941.1:c.731C>T	ENSP00000514048.1:p.Thr244Met
ENST00000698942.1:c.*722C>T	ENSP00000514049.1:n.*722C>T
ENST00000374994.9:c.926C>T MANE Select	ENSP00000364133.4:p.Thr309Met
ENST00000374990.6:c.695C>T	ENSP00000364129.2:p.Thr232Met
ENST00000374994.8:c.926C>T	ENSP00000364133.4:p.Thr309Met
ENST00000549766.5:c.938C>T	ENSP00000446685.1:p.Thr313Met
ENST00000550253.1:c.719C>T	ENSP00000450052.1:p.Thr240Met
ENST00000552516.5:c.938C>T	ENSP00000447297.1:p.Thr313Met
NM_001130916.1:c.695C>T	NP_001124388.1:p.Thr232Met
NM_001130916.2:c.695C>T	NP_001124388.1:p.Thr232Met
NM_001306210.1:c.938C>T	NP_001293139.1:p.Thr313Met
NM_004612.2:c.926C>T	NP_004603.1:p.Thr309Met
NM_004612.3:c.926C>T	NP_004603.1:p.Thr309Met
XM_011518948.1:c.731C>T	XP_011517250.1:p.Thr244Met
XM_011518949.1:c.719C>T	XP_011517251.1:p.Thr240Met
XM_011518950.1:c.488C>T	XP_011517252.1:p.Thr163Met
XM_011518948.2:c.731C>T	XP_011517250.1:p.Thr244Met
XM_011518949.2:c.719C>T	XP_011517251.1:p.Thr240Met
XM_011518950.2:c.488C>T	XP_011517252.1:p.Thr163Met
XM_017015063.1:c.731C>T	XP_016870552.1:p.Thr244Met
XM_024447658.1:c.719C>T	XP_024303426.1:p.Thr240Met
NM_004612.4:c.926C>T MANE Select	NP_004603.1:p.Thr309Met
NM_001130916.3:c.695C>T	NP_001124388.1:p.Thr232Met
NM_001306210.2:c.938C>T	NP_001293139.1:p.Thr313Met