Canonical Allele Identifier: CA374229779

Gene: TGFBR1

Linked Data

• dbSNP Id: rs2118717180
• MyVariant Identifiers: chr9:g.101900282A>T (hg19) ; chr9:g.99138000A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99138000A>T , CM000671.2:g.99138000A>T	GRCh38
NC_000009.11:g.101900282A>T , CM000671.1:g.101900282A>T	GRCh37
NC_000009.10:g.100940103A>T	NCBI36
NG_007461.1:g.37871A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.509A>T	ENSP00000449934.2:p.Glu170Val
ENST00000552573.7:c.521A>T	ENSP00000447182.3:p.Glu174Val
ENST00000548365.6:c.380-4536A>T	ENSP00000448518.2:n.380-4536A>T
ENST00000549021.6:c.278A>T	ENSP00000449028.2:p.Glu93Val
ENST00000698941.1:c.521A>T	ENSP00000514048.1:p.Glu174Val
ENST00000698942.1:c.*512A>T	ENSP00000514049.1:n.*512A>T
ENST00000374994.9:c.716A>T MANE Select	ENSP00000364133.4:p.Glu239Val
ENST00000374990.6:c.485A>T	ENSP00000364129.2:p.Glu162Val
ENST00000374994.8:c.716A>T	ENSP00000364133.4:p.Glu239Val
ENST00000549021.5:c.278A>T	ENSP00000449028.1:p.Glu93Val
ENST00000549766.5:c.728A>T	ENSP00000446685.1:p.Glu243Val
ENST00000550253.1:c.509A>T	ENSP00000450052.1:p.Glu170Val
ENST00000552516.5:c.728A>T	ENSP00000447297.1:p.Glu243Val
NM_001130916.1:c.485A>T	NP_001124388.1:p.Glu162Val
NM_001130916.2:c.485A>T	NP_001124388.1:p.Glu162Val
NM_001306210.1:c.728A>T	NP_001293139.1:p.Glu243Val
NM_004612.2:c.716A>T	NP_004603.1:p.Glu239Val
NM_004612.3:c.716A>T	NP_004603.1:p.Glu239Val
XM_011518948.1:c.521A>T	XP_011517250.1:p.Glu174Val
XM_011518949.1:c.509A>T	XP_011517251.1:p.Glu170Val
XM_011518950.1:c.278A>T	XP_011517252.1:p.Glu93Val
XM_011518948.2:c.521A>T	XP_011517250.1:p.Glu174Val
XM_011518949.2:c.509A>T	XP_011517251.1:p.Glu170Val
XM_011518950.2:c.278A>T	XP_011517252.1:p.Glu93Val
XM_017015063.1:c.521A>T	XP_016870552.1:p.Glu174Val
XM_024447658.1:c.509A>T	XP_024303426.1:p.Glu170Val
NM_004612.4:c.716A>T MANE Select	NP_004603.1:p.Glu239Val
NM_001130916.3:c.485A>T	NP_001124388.1:p.Glu162Val
NM_001306210.2:c.728A>T	NP_001293139.1:p.Glu243Val