Canonical Allele Identifier: CA466435356

Gene: TGFBR1

Linked Data

• dbSNP Id: rs1827802293
• gnomAD v4: 9-99146554-C-T
• MyVariant Identifiers: chr9:g.101908836C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146554C>T , CM000671.2:g.99146554C>T	GRCh38
NC_000009.11:g.101908836C>T , CM000671.1:g.101908836C>T	GRCh37
NC_000009.10:g.100948657C>T	NCBI36
NG_007461.1:g.46425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.993C>T	ENSP00000449934.2:p.Asp331=
ENST00000552573.7:c.1005C>T	ENSP00000447182.3:p.Asp335=
ENST00000548365.6:c.*122C>T	ENSP00000448518.2:n.*122C>T
ENST00000549021.6:c.762C>T	ENSP00000449028.2:p.Asp254=
ENST00000698941.1:c.1005C>T	ENSP00000514048.1:p.Asp335=
ENST00000698942.1:c.*996C>T	ENSP00000514049.1:n.*996C>T
ENST00000374994.9:c.1200C>T MANE Select	ENSP00000364133.4:p.Asp400=
ENST00000374990.6:c.969C>T	ENSP00000364129.2:p.Asp323=
ENST00000374994.8:c.1200C>T	ENSP00000364133.4:p.Asp400=
ENST00000549766.5:c.1143-1100C>T	ENSP00000446685.1:n.1143-1100C>T
ENST00000550253.1:c.993C>T	ENSP00000450052.1:p.Asp331=
ENST00000552516.5:c.1212C>T	ENSP00000447297.1:p.Asp404=
NM_001130916.1:c.969C>T	NP_001124388.1:p.Asp323=
NM_001130916.2:c.969C>T	NP_001124388.1:p.Asp323=
NM_001306210.1:c.1212C>T	NP_001293139.1:p.Asp404=
NM_004612.2:c.1200C>T	NP_004603.1:p.Asp400=
NM_004612.3:c.1200C>T	NP_004603.1:p.Asp400=
XM_011518948.1:c.1005C>T	XP_011517250.1:p.Asp335=
XM_011518949.1:c.993C>T	XP_011517251.1:p.Asp331=
XM_011518950.1:c.762C>T	XP_011517252.1:p.Asp254=
XM_011518948.2:c.1005C>T	XP_011517250.1:p.Asp335=
XM_011518949.2:c.993C>T	XP_011517251.1:p.Asp331=
XM_011518950.2:c.762C>T	XP_011517252.1:p.Asp254=
XM_017015063.1:c.1005C>T	XP_016870552.1:p.Asp335=
XM_024447658.1:c.993C>T	XP_024303426.1:p.Asp331=
NM_004612.4:c.1200C>T MANE Select	NP_004603.1:p.Asp400=
NM_001130916.3:c.969C>T	NP_001124388.1:p.Asp323=
NM_001306210.2:c.1212C>T	NP_001293139.1:p.Asp404=