Canonical Allele Identifier: CA374230816

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 862177
• ClinVar RCV Id: RCV001068851
• dbSNP Id: rs1554701491
• MyVariant Identifiers: chr9:g.101904971T>A (hg19) ; chr9:g.99142689T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142689T>A , CM000671.2:g.99142689T>A	GRCh38
NC_000009.11:g.101904971T>A , CM000671.1:g.101904971T>A	GRCh37
NC_000009.10:g.100944792T>A	NCBI36
NG_007461.1:g.42560T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.752T>A	ENSP00000449934.2:p.Ile251Asn
ENST00000552573.7:c.764T>A	ENSP00000447182.3:p.Ile255Asn
ENST00000548365.6:c.533T>A	ENSP00000448518.2:p.Ile178Asn
ENST00000549021.6:c.521T>A	ENSP00000449028.2:p.Ile174Asn
ENST00000698941.1:c.764T>A	ENSP00000514048.1:p.Ile255Asn
ENST00000698942.1:c.*755T>A	ENSP00000514049.1:n.*755T>A
ENST00000374994.9:c.959T>A MANE Select	ENSP00000364133.4:p.Ile320Asn
ENST00000374990.6:c.728T>A	ENSP00000364129.2:p.Ile243Asn
ENST00000374994.8:c.959T>A	ENSP00000364133.4:p.Ile320Asn
ENST00000549766.5:c.971T>A	ENSP00000446685.1:p.Ile324Asn
ENST00000550253.1:c.752T>A	ENSP00000450052.1:p.Ile251Asn
ENST00000552516.5:c.971T>A	ENSP00000447297.1:p.Ile324Asn
NM_001130916.1:c.728T>A	NP_001124388.1:p.Ile243Asn
NM_001130916.2:c.728T>A	NP_001124388.1:p.Ile243Asn
NM_001306210.1:c.971T>A	NP_001293139.1:p.Ile324Asn
NM_004612.2:c.959T>A	NP_004603.1:p.Ile320Asn
NM_004612.3:c.959T>A	NP_004603.1:p.Ile320Asn
XM_011518948.1:c.764T>A	XP_011517250.1:p.Ile255Asn
XM_011518949.1:c.752T>A	XP_011517251.1:p.Ile251Asn
XM_011518950.1:c.521T>A	XP_011517252.1:p.Ile174Asn
XM_011518948.2:c.764T>A	XP_011517250.1:p.Ile255Asn
XM_011518949.2:c.752T>A	XP_011517251.1:p.Ile251Asn
XM_011518950.2:c.521T>A	XP_011517252.1:p.Ile174Asn
XM_017015063.1:c.764T>A	XP_016870552.1:p.Ile255Asn
XM_024447658.1:c.752T>A	XP_024303426.1:p.Ile251Asn
NM_004612.4:c.959T>A MANE Select	NP_004603.1:p.Ile320Asn
NM_001130916.3:c.728T>A	NP_001124388.1:p.Ile243Asn
NM_001306210.2:c.971T>A	NP_001293139.1:p.Ile324Asn