Canonical Allele Identifier: CA039998

Gene: TGFBR1

Linked Data

• dbSNP Id: rs200986584
• ExAC: 9:101908868 T / C
• gnomAD v2: 9-101908868-T-C
• gnomAD v4: 9-99146586-T-C
• MyVariant Identifiers: chr9:g.101908868T>C (hg19) ; chr9:g.99146586T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146586T>C , CM000671.2:g.99146586T>C	GRCh38
NC_000009.11:g.101908868T>C , CM000671.1:g.101908868T>C	GRCh37
NC_000009.10:g.100948689T>C	NCBI36
NG_007461.1:g.46457T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.1025T>C	ENSP00000449934.2:p.Ile342Thr
ENST00000552573.7:c.1037T>C	ENSP00000447182.3:p.Ile346Thr
ENST00000548365.6:c.*154T>C	ENSP00000448518.2:n.*154T>C
ENST00000549021.6:c.794T>C	ENSP00000449028.2:p.Ile265Thr
ENST00000698941.1:c.1037T>C	ENSP00000514048.1:p.Ile346Thr
ENST00000698942.1:c.*1028T>C	ENSP00000514049.1:n.*1028T>C
ENST00000374994.9:c.1232T>C MANE Select	ENSP00000364133.4:p.Ile411Thr
ENST00000374990.6:c.1001T>C	ENSP00000364129.2:p.Ile334Thr
ENST00000374994.8:c.1232T>C	ENSP00000364133.4:p.Ile411Thr
ENST00000549766.5:c.1143-1068T>C	ENSP00000446685.1:n.1143-1068T>C
ENST00000550253.1:c.1025T>C	ENSP00000450052.1:p.Ile342Thr
ENST00000552516.5:c.1244T>C	ENSP00000447297.1:p.Ile415Thr
NM_001130916.1:c.1001T>C	NP_001124388.1:p.Ile334Thr
NM_001130916.2:c.1001T>C	NP_001124388.1:p.Ile334Thr
NM_001306210.1:c.1244T>C	NP_001293139.1:p.Ile415Thr
NM_004612.2:c.1232T>C	NP_004603.1:p.Ile411Thr
NM_004612.3:c.1232T>C	NP_004603.1:p.Ile411Thr
XM_011518948.1:c.1037T>C	XP_011517250.1:p.Ile346Thr
XM_011518949.1:c.1025T>C	XP_011517251.1:p.Ile342Thr
XM_011518950.1:c.794T>C	XP_011517252.1:p.Ile265Thr
XM_011518948.2:c.1037T>C	XP_011517250.1:p.Ile346Thr
XM_011518949.2:c.1025T>C	XP_011517251.1:p.Ile342Thr
XM_011518950.2:c.794T>C	XP_011517252.1:p.Ile265Thr
XM_017015063.1:c.1037T>C	XP_016870552.1:p.Ile346Thr
XM_024447658.1:c.1025T>C	XP_024303426.1:p.Ile342Thr
NM_004612.4:c.1232T>C MANE Select	NP_004603.1:p.Ile411Thr
NM_001130916.3:c.1001T>C	NP_001124388.1:p.Ile334Thr
NM_001306210.2:c.1244T>C	NP_001293139.1:p.Ile415Thr