Canonical Allele Identifier: CA374232614

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101908775C>T (hg19) ; chr9:g.99146493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146493C>T , CM000671.2:g.99146493C>T	GRCh38
NC_000009.11:g.101908775C>T , CM000671.1:g.101908775C>T	GRCh37
NC_000009.10:g.100948596C>T	NCBI36
NG_007461.1:g.46364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.932C>T	ENSP00000449934.2:p.Ala311Val
ENST00000552573.7:c.944C>T	ENSP00000447182.3:p.Ala315Val
ENST00000548365.6:c.*61C>T	ENSP00000448518.2:n.*61C>T
ENST00000549021.6:c.701C>T	ENSP00000449028.2:p.Ala234Val
ENST00000698941.1:c.944C>T	ENSP00000514048.1:p.Ala315Val
ENST00000698942.1:c.*935C>T	ENSP00000514049.1:n.*935C>T
ENST00000374994.9:c.1139C>T MANE Select	ENSP00000364133.4:p.Ala380Val
ENST00000374990.6:c.908C>T	ENSP00000364129.2:p.Ala303Val
ENST00000374994.8:c.1139C>T	ENSP00000364133.4:p.Ala380Val
ENST00000549766.5:c.1143-1161C>T	ENSP00000446685.1:n.1143-1161C>T
ENST00000550253.1:c.932C>T	ENSP00000450052.1:p.Ala311Val
ENST00000552516.5:c.1151C>T	ENSP00000447297.1:p.Ala384Val
NM_001130916.1:c.908C>T	NP_001124388.1:p.Ala303Val
NM_001130916.2:c.908C>T	NP_001124388.1:p.Ala303Val
NM_001306210.1:c.1151C>T	NP_001293139.1:p.Ala384Val
NM_004612.2:c.1139C>T	NP_004603.1:p.Ala380Val
NM_004612.3:c.1139C>T	NP_004603.1:p.Ala380Val
XM_011518948.1:c.944C>T	XP_011517250.1:p.Ala315Val
XM_011518949.1:c.932C>T	XP_011517251.1:p.Ala311Val
XM_011518950.1:c.701C>T	XP_011517252.1:p.Ala234Val
XM_011518948.2:c.944C>T	XP_011517250.1:p.Ala315Val
XM_011518949.2:c.932C>T	XP_011517251.1:p.Ala311Val
XM_011518950.2:c.701C>T	XP_011517252.1:p.Ala234Val
XM_017015063.1:c.944C>T	XP_016870552.1:p.Ala315Val
XM_024447658.1:c.932C>T	XP_024303426.1:p.Ala311Val
NM_004612.4:c.1139C>T MANE Select	NP_004603.1:p.Ala380Val
NM_001130916.3:c.908C>T	NP_001124388.1:p.Ala303Val
NM_001306210.2:c.1151C>T	NP_001293139.1:p.Ala384Val