Canonical Allele Identifier: CA10634287

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 364123
• ClinVar RCV Id: RCV000302169 ; RCV000341918 ; RCV000406312
• dbSNP Id: rs886063234
• gnomAD v4: 9-99151009-G-T
• MyVariant Identifiers: chr9:g.101913291G>T (hg19) ; chr9:g.99151009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151009G>T , CM000671.2:g.99151009G>T	GRCh38
NC_000009.11:g.101913291G>T , CM000671.1:g.101913291G>T	GRCh37
NC_000009.10:g.100953112G>T	NCBI36
NG_007461.1:g.50880G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*1704G>T	ENSP00000449934.2:n.*1704G>T
ENST00000552573.7:c.*1704G>T	ENSP00000447182.3:n.*1704G>T
ENST00000698941.1:c.*1704G>T	ENSP00000514048.1:n.*1704G>T
ENST00000698943.1:n.2783G>T
ENST00000374994.9:c.*1704G>T MANE Select	ENSP00000364133.4:n.*1704G>T
ENST00000374990.6:c.*1704G>T	ENSP00000364129.2:n.*1704G>T
ENST00000374994.8:c.*1704G>T	ENSP00000364133.4:n.*1704G>T
ENST00000552516.5:c.*1704G>T	ENSP00000447297.1:n.*1704G>T
NM_001130916.1:c.*1704G>T	NP_001124388.1:n.*1704G>T
NM_001130916.2:c.*1704G>T	NP_001124388.1:n.*1704G>T
NM_001306210.1:c.*1704G>T	NP_001293139.1:n.*1704G>T
NM_004612.2:c.*1704G>T	NP_004603.1:n.*1704G>T
NM_004612.3:c.*1704G>T	NP_004603.1:n.*1704G>T
XM_011518948.1:c.*1704G>T	XP_011517250.1:n.*1704G>T
XM_011518949.1:c.*1704G>T	XP_011517251.1:n.*1704G>T
XM_011518950.1:c.*1704G>T	XP_011517252.1:n.*1704G>T
NM_004612.4:c.*1704G>T MANE Select	NP_004603.1:n.*1704G>T
NM_001130916.3:c.*1704G>T	NP_001124388.1:n.*1704G>T
NM_001306210.2:c.*1704G>T	NP_001293139.1:n.*1704G>T