Canonical Allele Identifier: CA374230675

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 3071065
• ClinVar RCV Id: RCV004014567
• MyVariant Identifiers: chr9:g.101904904A>C (hg19) ; chr9:g.99142622A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.685A>C	ENSP00000449934.2:p.Thr229Pro
ENST00000552573.7:c.697A>C	ENSP00000447182.3:p.Thr233Pro
ENST00000548365.6:c.466A>C	ENSP00000448518.2:p.Thr156Pro
ENST00000549021.6:c.454A>C	ENSP00000449028.2:p.Thr152Pro
ENST00000698941.1:c.697A>C	ENSP00000514048.1:p.Thr233Pro
ENST00000698942.1:c.*688A>C	ENSP00000514049.1:n.*688A>C
ENST00000374994.9:c.892A>C MANE Select	ENSP00000364133.4:p.Thr298Pro
ENST00000374990.6:c.661A>C	ENSP00000364129.2:p.Thr221Pro
ENST00000374994.8:c.892A>C	ENSP00000364133.4:p.Thr298Pro
ENST00000549766.5:c.904A>C	ENSP00000446685.1:p.Thr302Pro
ENST00000550253.1:c.685A>C	ENSP00000450052.1:p.Thr229Pro
ENST00000552516.5:c.904A>C	ENSP00000447297.1:p.Thr302Pro
NM_001130916.1:c.661A>C	NP_001124388.1:p.Thr221Pro
NM_001130916.2:c.661A>C	NP_001124388.1:p.Thr221Pro
NM_001306210.1:c.904A>C	NP_001293139.1:p.Thr302Pro
NM_004612.2:c.892A>C	NP_004603.1:p.Thr298Pro
NM_004612.3:c.892A>C	NP_004603.1:p.Thr298Pro
XM_011518948.1:c.697A>C	XP_011517250.1:p.Thr233Pro
XM_011518949.1:c.685A>C	XP_011517251.1:p.Thr229Pro
XM_011518950.1:c.454A>C	XP_011517252.1:p.Thr152Pro
XM_011518948.2:c.697A>C	XP_011517250.1:p.Thr233Pro
XM_011518949.2:c.685A>C	XP_011517251.1:p.Thr229Pro
XM_011518950.2:c.454A>C	XP_011517252.1:p.Thr152Pro
XM_017015063.1:c.697A>C	XP_016870552.1:p.Thr233Pro
XM_024447658.1:c.685A>C	XP_024303426.1:p.Thr229Pro
NM_004612.4:c.892A>C MANE Select	NP_004603.1:p.Thr298Pro
NM_001130916.3:c.661A>C	NP_001124388.1:p.Thr221Pro
NM_001306210.2:c.904A>C	NP_001293139.1:p.Thr302Pro