Canonical Allele Identifier: CA10634286

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 364110
• ClinVar RCV Id: RCV000299592 ; RCV000356807 ; RCV000403738
• dbSNP Id: rs200926268
• gnomAD v4: 9-99150061-C-A
• MyVariant Identifiers: chr9:g.101912343C>A (hg19) ; chr9:g.99150061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99150061C>A , CM000671.2:g.99150061C>A	GRCh38
NC_000009.11:g.101912343C>A , CM000671.1:g.101912343C>A	GRCh37
NC_000009.10:g.100952164C>A	NCBI36
NG_007461.1:g.49932C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*756C>A	ENSP00000449934.2:n.*756C>A
ENST00000552573.7:c.*756C>A	ENSP00000447182.3:n.*756C>A
ENST00000698941.1:c.*756C>A	ENSP00000514048.1:n.*756C>A
ENST00000698943.1:n.1835C>A
ENST00000374994.9:c.*756C>A MANE Select	ENSP00000364133.4:n.*756C>A
ENST00000374990.6:c.*756C>A	ENSP00000364129.2:n.*756C>A
ENST00000374994.8:c.*756C>A	ENSP00000364133.4:n.*756C>A
ENST00000552516.5:c.*756C>A	ENSP00000447297.1:n.*756C>A
NM_001130916.1:c.*756C>A	NP_001124388.1:n.*756C>A
NM_001130916.2:c.*756C>A	NP_001124388.1:n.*756C>A
NM_001306210.1:c.*756C>A	NP_001293139.1:n.*756C>A
NM_004612.2:c.*756C>A	NP_004603.1:n.*756C>A
NM_004612.3:c.*756C>A	NP_004603.1:n.*756C>A
XM_011518948.1:c.*756C>A	XP_011517250.1:n.*756C>A
XM_011518949.1:c.*756C>A	XP_011517251.1:n.*756C>A
XM_011518950.1:c.*756C>A	XP_011517252.1:n.*756C>A
XM_011518948.2:c.*756C>A	XP_011517250.1:n.*756C>A
XM_011518949.2:c.*756C>A	XP_011517251.1:n.*756C>A
XM_011518950.2:c.*756C>A	XP_011517252.1:n.*756C>A
XM_017015063.1:c.*756C>A	XP_016870552.1:n.*756C>A
XM_024447658.1:c.*756C>A	XP_024303426.1:n.*756C>A
NM_004612.4:c.*756C>A MANE Select	NP_004603.1:n.*756C>A
NM_001130916.3:c.*756C>A	NP_001124388.1:n.*756C>A
NM_001306210.2:c.*756C>A	NP_001293139.1:n.*756C>A