Canonical Allele Identifier: CA374233057

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 1463632
• ClinVar RCV Id: RCV001997756 ; RCV004010997
• dbSNP Id: rs1827803560
• MyVariant Identifiers: chr9:g.101908858T>A (hg19) ; chr9:g.99146576T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146576T>A , CM000671.2:g.99146576T>A	GRCh38
NC_000009.11:g.101908858T>A , CM000671.1:g.101908858T>A	GRCh37
NC_000009.10:g.100948679T>A	NCBI36
NG_007461.1:g.46447T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.1015T>A	ENSP00000449934.2:p.Phe339Ile
ENST00000552573.7:c.1027T>A	ENSP00000447182.3:p.Phe343Ile
ENST00000548365.6:c.*144T>A	ENSP00000448518.2:n.*144T>A
ENST00000549021.6:c.784T>A	ENSP00000449028.2:p.Phe262Ile
ENST00000698941.1:c.1027T>A	ENSP00000514048.1:p.Phe343Ile
ENST00000698942.1:c.*1018T>A	ENSP00000514049.1:n.*1018T>A
ENST00000374994.9:c.1222T>A MANE Select	ENSP00000364133.4:p.Phe408Ile
ENST00000374990.6:c.991T>A	ENSP00000364129.2:p.Phe331Ile
ENST00000374994.8:c.1222T>A	ENSP00000364133.4:p.Phe408Ile
ENST00000549766.5:c.1143-1078T>A	ENSP00000446685.1:n.1143-1078T>A
ENST00000550253.1:c.1015T>A	ENSP00000450052.1:p.Phe339Ile
ENST00000552516.5:c.1234T>A	ENSP00000447297.1:p.Phe412Ile
NM_001130916.1:c.991T>A	NP_001124388.1:p.Phe331Ile
NM_001130916.2:c.991T>A	NP_001124388.1:p.Phe331Ile
NM_001306210.1:c.1234T>A	NP_001293139.1:p.Phe412Ile
NM_004612.2:c.1222T>A	NP_004603.1:p.Phe408Ile
NM_004612.3:c.1222T>A	NP_004603.1:p.Phe408Ile
XM_011518948.1:c.1027T>A	XP_011517250.1:p.Phe343Ile
XM_011518949.1:c.1015T>A	XP_011517251.1:p.Phe339Ile
XM_011518950.1:c.784T>A	XP_011517252.1:p.Phe262Ile
XM_011518948.2:c.1027T>A	XP_011517250.1:p.Phe343Ile
XM_011518949.2:c.1015T>A	XP_011517251.1:p.Phe339Ile
XM_011518950.2:c.784T>A	XP_011517252.1:p.Phe262Ile
XM_017015063.1:c.1027T>A	XP_016870552.1:p.Phe343Ile
XM_024447658.1:c.1015T>A	XP_024303426.1:p.Phe339Ile
NM_004612.4:c.1222T>A MANE Select	NP_004603.1:p.Phe408Ile
NM_001130916.3:c.991T>A	NP_001124388.1:p.Phe331Ile
NM_001306210.2:c.1234T>A	NP_001293139.1:p.Phe412Ile