Canonical Allele Identifier: CA466648135

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 1630854
• ClinVar RCV Id: RCV002123606
• dbSNP Id: rs1564154343
• MyVariant Identifiers: chr9:g.101894972T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99132690T>A , CM000671.2:g.99132690T>A	GRCh38
NC_000009.11:g.101894972T>A , CM000671.1:g.101894972T>A	GRCh37
NC_000009.10:g.100934793T>A	NCBI36
NG_007461.1:g.32561T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.318T>A	ENSP00000449934.2:p.Thr106=
ENST00000552573.7:c.330T>A	ENSP00000447182.3:p.Thr110=
ENST00000548365.6:c.330T>A	ENSP00000448518.2:p.Thr110=
ENST00000549021.6:c.136+3590T>A	ENSP00000449028.2:n.136+3590T>A
ENST00000698941.1:c.330T>A	ENSP00000514048.1:p.Thr110=
ENST00000698942.1:c.*321T>A	ENSP00000514049.1:n.*321T>A
ENST00000374994.9:c.525T>A MANE Select	ENSP00000364133.4:p.Thr175=
ENST00000374990.6:c.343+3590T>A	ENSP00000364129.2:n.343+3590T>A
ENST00000374994.8:c.525T>A	ENSP00000364133.4:p.Thr175=
ENST00000546584.1:c.318T>A	ENSP00000447707.2:p.Thr106=
ENST00000547314.5:c.318T>A	ENSP00000449934.1:p.Thr106=
ENST00000548365.5:c.330T>A	ENSP00000448518.1:p.Thr110=
ENST00000549021.5:c.136+3590T>A	ENSP00000449028.1:n.136+3590T>A
ENST00000549766.5:c.537T>A	ENSP00000446685.1:p.Thr179=
ENST00000550253.1:c.318T>A	ENSP00000450052.1:p.Thr106=
ENST00000552516.5:c.537T>A	ENSP00000447297.1:p.Thr179=
ENST00000552573.6:c.330T>A	ENSP00000447182.2:p.Thr110=
NM_001130916.1:c.343+3590T>A	NP_001124388.1:n.343+3590T>A
NM_001130916.2:c.343+3590T>A	NP_001124388.1:n.343+3590T>A
NM_001306210.1:c.537T>A	NP_001293139.1:p.Thr179=
NM_004612.2:c.525T>A	NP_004603.1:p.Thr175=
NM_004612.3:c.525T>A	NP_004603.1:p.Thr175=
XM_011518948.1:c.330T>A	XP_011517250.1:p.Thr110=
XM_011518949.1:c.318T>A	XP_011517251.1:p.Thr106=
XM_011518950.1:c.136+3590T>A	XP_011517252.1:n.136+3590T>A
XM_011518948.2:c.330T>A	XP_011517250.1:p.Thr110=
XM_011518949.2:c.318T>A	XP_011517251.1:p.Thr106=
XM_011518950.2:c.136+3590T>A	XP_011517252.1:n.136+3590T>A
XM_017015063.1:c.330T>A	XP_016870552.1:p.Thr110=
XM_024447658.1:c.318T>A	XP_024303426.1:p.Thr106=
NM_004612.4:c.525T>A MANE Select	NP_004603.1:p.Thr175=
NM_001130916.3:c.343+3590T>A	NP_001124388.1:n.343+3590T>A
NM_001306210.2:c.537T>A	NP_001293139.1:p.Thr179=