Canonical Allele Identifier: CA466434529

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101904975T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142693T>G , CM000671.2:g.99142693T>G	GRCh38
NC_000009.11:g.101904975T>G , CM000671.1:g.101904975T>G	GRCh37
NC_000009.10:g.100944796T>G	NCBI36
NG_007461.1:g.42564T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.756T>G	ENSP00000449934.2:p.Val252=
ENST00000552573.7:c.768T>G	ENSP00000447182.3:p.Val256=
ENST00000548365.6:c.537T>G	ENSP00000448518.2:p.Val179=
ENST00000549021.6:c.525T>G	ENSP00000449028.2:p.Val175=
ENST00000698941.1:c.768T>G	ENSP00000514048.1:p.Val256=
ENST00000698942.1:c.*759T>G	ENSP00000514049.1:n.*759T>G
ENST00000374994.9:c.963T>G MANE Select	ENSP00000364133.4:p.Val321=
ENST00000374990.6:c.732T>G	ENSP00000364129.2:p.Val244=
ENST00000374994.8:c.963T>G	ENSP00000364133.4:p.Val321=
ENST00000549766.5:c.975T>G	ENSP00000446685.1:p.Val325=
ENST00000550253.1:c.756T>G	ENSP00000450052.1:p.Val252=
ENST00000552516.5:c.975T>G	ENSP00000447297.1:p.Val325=
NM_001130916.1:c.732T>G	NP_001124388.1:p.Val244=
NM_001130916.2:c.732T>G	NP_001124388.1:p.Val244=
NM_001306210.1:c.975T>G	NP_001293139.1:p.Val325=
NM_004612.2:c.963T>G	NP_004603.1:p.Val321=
NM_004612.3:c.963T>G	NP_004603.1:p.Val321=
XM_011518948.1:c.768T>G	XP_011517250.1:p.Val256=
XM_011518949.1:c.756T>G	XP_011517251.1:p.Val252=
XM_011518950.1:c.525T>G	XP_011517252.1:p.Val175=
XM_011518948.2:c.768T>G	XP_011517250.1:p.Val256=
XM_011518949.2:c.756T>G	XP_011517251.1:p.Val252=
XM_011518950.2:c.525T>G	XP_011517252.1:p.Val175=
XM_017015063.1:c.768T>G	XP_016870552.1:p.Val256=
XM_024447658.1:c.756T>G	XP_024303426.1:p.Val252=
NM_004612.4:c.963T>G MANE Select	NP_004603.1:p.Val321=
NM_001130916.3:c.732T>G	NP_001124388.1:p.Val244=
NM_001306210.2:c.975T>G	NP_001293139.1:p.Val325=