Canonical Allele Identifier: CA374232933

Gene: TGFBR1

Linked Data

• gnomAD v4: 9-99146547-G-T
• MyVariant Identifiers: chr9:g.101908829G>T (hg19) ; chr9:g.99146547G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146547G>T , CM000671.2:g.99146547G>T	GRCh38
NC_000009.11:g.101908829G>T , CM000671.1:g.101908829G>T	GRCh37
NC_000009.10:g.100948650G>T	NCBI36
NG_007461.1:g.46418G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.986G>T	ENSP00000449934.2:p.Arg329Leu
ENST00000552573.7:c.998G>T	ENSP00000447182.3:p.Arg333Leu
ENST00000548365.6:c.*115G>T	ENSP00000448518.2:n.*115G>T
ENST00000549021.6:c.755G>T	ENSP00000449028.2:p.Arg252Leu
ENST00000698941.1:c.998G>T	ENSP00000514048.1:p.Arg333Leu
ENST00000698942.1:c.*989G>T	ENSP00000514049.1:n.*989G>T
ENST00000374994.9:c.1193G>T MANE Select	ENSP00000364133.4:p.Arg398Leu
ENST00000374990.6:c.962G>T	ENSP00000364129.2:p.Arg321Leu
ENST00000374994.8:c.1193G>T	ENSP00000364133.4:p.Arg398Leu
ENST00000549766.5:c.1143-1107G>T	ENSP00000446685.1:n.1143-1107G>T
ENST00000550253.1:c.986G>T	ENSP00000450052.1:p.Arg329Leu
ENST00000552516.5:c.1205G>T	ENSP00000447297.1:p.Arg402Leu
NM_001130916.1:c.962G>T	NP_001124388.1:p.Arg321Leu
NM_001130916.2:c.962G>T	NP_001124388.1:p.Arg321Leu
NM_001306210.1:c.1205G>T	NP_001293139.1:p.Arg402Leu
NM_004612.2:c.1193G>T	NP_004603.1:p.Arg398Leu
NM_004612.3:c.1193G>T	NP_004603.1:p.Arg398Leu
XM_011518948.1:c.998G>T	XP_011517250.1:p.Arg333Leu
XM_011518949.1:c.986G>T	XP_011517251.1:p.Arg329Leu
XM_011518950.1:c.755G>T	XP_011517252.1:p.Arg252Leu
XM_011518948.2:c.998G>T	XP_011517250.1:p.Arg333Leu
XM_011518949.2:c.986G>T	XP_011517251.1:p.Arg329Leu
XM_011518950.2:c.755G>T	XP_011517252.1:p.Arg252Leu
XM_017015063.1:c.998G>T	XP_016870552.1:p.Arg333Leu
XM_024447658.1:c.986G>T	XP_024303426.1:p.Arg329Leu
NM_004612.4:c.1193G>T MANE Select	NP_004603.1:p.Arg398Leu
NM_001130916.3:c.962G>T	NP_001124388.1:p.Arg321Leu
NM_001306210.2:c.1205G>T	NP_001293139.1:p.Arg402Leu