Canonical Allele Identifier: CA16605939
Gene: TGFBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 390959
ClinVar RCV Id: RCV000417662
dbSNP Id: rs113605875

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99149253G>T , CM000671.2:g.99149253G>T GRCh38
NC_000009.11:g.101911535G>T , CM000671.1:g.101911535G>T GRCh37
NC_000009.10:g.100951356G>T NCBI36
NG_007461.1:g.49124G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000547314.6:c.1253G>T ENSP00000449934.2:p.Arg418Leu
ENST00000552573.7:c.1265G>T ENSP00000447182.3:p.Arg422Leu
ENST00000548365.6:c.*382G>T ENSP00000448518.2:n.*382G>T
ENST00000549021.6:c.1022G>T ENSP00000449028.2:p.Arg341Leu
ENST00000698941.1:c.1265G>T ENSP00000514048.1:p.Arg422Leu
ENST00000698942.1:c.*1256G>T ENSP00000514049.1:n.*1256G>T
ENST00000698943.1:n.1027G>T
ENST00000374994.9:c.1460G>T MANE Select ENSP00000364133.4:p.Arg487Leu
ENST00000374990.6:c.1229G>T ENSP00000364129.2:p.Arg410Leu
ENST00000374994.8:c.1460G>T ENSP00000364133.4:p.Arg487Leu
ENST00000549766.5:c.*195G>T ENSP00000446685.1:n.*195G>T
ENST00000550253.1:c.1253G>T ENSP00000450052.1:p.Arg418Leu
ENST00000552516.5:c.1472G>T ENSP00000447297.1:p.Arg491Leu
NM_001130916.1:c.1229G>T NP_001124388.1:p.Arg410Leu
NM_001130916.2:c.1229G>T NP_001124388.1:p.Arg410Leu
NM_001306210.1:c.1472G>T NP_001293139.1:p.Arg491Leu
NM_004612.2:c.1460G>T NP_004603.1:p.Arg487Leu
NM_004612.3:c.1460G>T NP_004603.1:p.Arg487Leu
XM_011518948.1:c.1265G>T XP_011517250.1:p.Arg422Leu
XM_011518949.1:c.1253G>T XP_011517251.1:p.Arg418Leu
XM_011518950.1:c.1022G>T XP_011517252.1:p.Arg341Leu
XM_011518948.2:c.1265G>T XP_011517250.1:p.Arg422Leu
XM_011518949.2:c.1253G>T XP_011517251.1:p.Arg418Leu
XM_011518950.2:c.1022G>T XP_011517252.1:p.Arg341Leu
XM_017015063.1:c.1265G>T XP_016870552.1:p.Arg422Leu
XM_024447658.1:c.1253G>T XP_024303426.1:p.Arg418Leu
NM_004612.4:c.1460G>T MANE Select NP_004603.1:p.Arg487Leu
NM_001130916.3:c.1229G>T NP_001124388.1:p.Arg410Leu
NM_001306210.2:c.1472G>T NP_001293139.1:p.Arg491Leu