Canonical Allele Identifier: CA374228339

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101894978G>T (hg19) ; chr9:g.99132696G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99132696G>T , CM000671.2:g.99132696G>T	GRCh38
NC_000009.11:g.101894978G>T , CM000671.1:g.101894978G>T	GRCh37
NC_000009.10:g.100934799G>T	NCBI36
NG_007461.1:g.32567G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.324G>T	ENSP00000449934.2:p.Leu108Phe
ENST00000552573.7:c.336G>T	ENSP00000447182.3:p.Leu112Phe
ENST00000548365.6:c.336G>T	ENSP00000448518.2:p.Leu112Phe
ENST00000549021.6:c.136+3596G>T	ENSP00000449028.2:n.136+3596G>T
ENST00000698941.1:c.336G>T	ENSP00000514048.1:p.Leu112Phe
ENST00000698942.1:c.*327G>T	ENSP00000514049.1:n.*327G>T
ENST00000374994.9:c.531G>T MANE Select	ENSP00000364133.4:p.Leu177Phe
ENST00000374990.6:c.343+3596G>T	ENSP00000364129.2:n.343+3596G>T
ENST00000374994.8:c.531G>T	ENSP00000364133.4:p.Leu177Phe
ENST00000546584.1:c.324G>T	ENSP00000447707.2:p.Leu108Phe
ENST00000547314.5:c.324G>T	ENSP00000449934.1:p.Leu108Phe
ENST00000548365.5:c.336G>T	ENSP00000448518.1:p.Leu112Phe
ENST00000549021.5:c.136+3596G>T	ENSP00000449028.1:n.136+3596G>T
ENST00000549766.5:c.543G>T	ENSP00000446685.1:p.Leu181Phe
ENST00000550253.1:c.324G>T	ENSP00000450052.1:p.Leu108Phe
ENST00000552516.5:c.543G>T	ENSP00000447297.1:p.Leu181Phe
ENST00000552573.6:c.336G>T	ENSP00000447182.2:p.Leu112Phe
NM_001130916.1:c.343+3596G>T	NP_001124388.1:n.343+3596G>T
NM_001130916.2:c.343+3596G>T	NP_001124388.1:n.343+3596G>T
NM_001306210.1:c.543G>T	NP_001293139.1:p.Leu181Phe
NM_004612.2:c.531G>T	NP_004603.1:p.Leu177Phe
NM_004612.3:c.531G>T	NP_004603.1:p.Leu177Phe
XM_011518948.1:c.336G>T	XP_011517250.1:p.Leu112Phe
XM_011518949.1:c.324G>T	XP_011517251.1:p.Leu108Phe
XM_011518950.1:c.136+3596G>T	XP_011517252.1:n.136+3596G>T
XM_011518948.2:c.336G>T	XP_011517250.1:p.Leu112Phe
XM_011518949.2:c.324G>T	XP_011517251.1:p.Leu108Phe
XM_011518950.2:c.136+3596G>T	XP_011517252.1:n.136+3596G>T
XM_017015063.1:c.336G>T	XP_016870552.1:p.Leu112Phe
XM_024447658.1:c.324G>T	XP_024303426.1:p.Leu108Phe
NM_004612.4:c.531G>T MANE Select	NP_004603.1:p.Leu177Phe
NM_001130916.3:c.343+3596G>T	NP_001124388.1:n.343+3596G>T
NM_001306210.2:c.543G>T	NP_001293139.1:p.Leu181Phe