Canonical Allele Identifier: CA10630707

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 364126
• ClinVar RCV Id: RCV000273507 ; RCV000328530 ; RCV000386832
• dbSNP Id: rs886063235
• gnomAD v4: 9-99151092-T-C
• MyVariant Identifiers: chr9:g.101913374T>C (hg19) ; chr9:g.99151092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151092T>C , CM000671.2:g.99151092T>C	GRCh38
NC_000009.11:g.101913374T>C , CM000671.1:g.101913374T>C	GRCh37
NC_000009.10:g.100953195T>C	NCBI36
NG_007461.1:g.50963T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*1787T>C	ENSP00000449934.2:n.*1787T>C
ENST00000552573.7:c.*1787T>C	ENSP00000447182.3:n.*1787T>C
ENST00000698941.1:c.*1787T>C	ENSP00000514048.1:n.*1787T>C
ENST00000698943.1:n.2866T>C
ENST00000374994.9:c.*1787T>C MANE Select	ENSP00000364133.4:n.*1787T>C
ENST00000374990.6:c.*1787T>C	ENSP00000364129.2:n.*1787T>C
ENST00000374994.8:c.*1787T>C	ENSP00000364133.4:n.*1787T>C
ENST00000552516.5:c.*1787T>C	ENSP00000447297.1:n.*1787T>C
NM_001130916.1:c.*1787T>C	NP_001124388.1:n.*1787T>C
NM_001130916.2:c.*1787T>C	NP_001124388.1:n.*1787T>C
NM_001306210.1:c.*1787T>C	NP_001293139.1:n.*1787T>C
NM_004612.2:c.*1787T>C	NP_004603.1:n.*1787T>C
NM_004612.3:c.*1787T>C	NP_004603.1:n.*1787T>C
XM_011518948.1:c.*1787T>C	XP_011517250.1:n.*1787T>C
XM_011518949.1:c.*1787T>C	XP_011517251.1:n.*1787T>C
XM_011518950.1:c.*1787T>C	XP_011517252.1:n.*1787T>C
NM_004612.4:c.*1787T>C MANE Select	NP_004603.1:n.*1787T>C
NM_001130916.3:c.*1787T>C	NP_001124388.1:n.*1787T>C
NM_001306210.2:c.*1787T>C	NP_001293139.1:n.*1787T>C