Canonical Allele Identifier: CA466648186

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 1644956
• ClinVar RCV Id: RCV002143576
• dbSNP Id: rs1234201885
• gnomAD v2: 9-101894927-T-C
• gnomAD v3: 9-99132645-T-C
• gnomAD v4: 9-99132645-T-C
• MyVariant Identifiers: chr9:g.101894927T>C (hg19) ; chr9:g.99132645T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99132645T>C , CM000671.2:g.99132645T>C	GRCh38
NC_000009.11:g.101894927T>C , CM000671.1:g.101894927T>C	GRCh37
NC_000009.10:g.100934748T>C	NCBI36
NG_007461.1:g.32516T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.273T>C	ENSP00000449934.2:p.Asn91=
ENST00000552573.7:c.285T>C	ENSP00000447182.3:p.Asn95=
ENST00000548365.6:c.285T>C	ENSP00000448518.2:p.Asn95=
ENST00000549021.6:c.136+3545T>C	ENSP00000449028.2:n.136+3545T>C
ENST00000698941.1:c.285T>C	ENSP00000514048.1:p.Asn95=
ENST00000698942.1:c.*276T>C	ENSP00000514049.1:n.*276T>C
ENST00000374994.9:c.480T>C MANE Select	ENSP00000364133.4:p.Asn160=
ENST00000374990.6:c.343+3545T>C	ENSP00000364129.2:n.343+3545T>C
ENST00000374994.8:c.480T>C	ENSP00000364133.4:p.Asn160=
ENST00000546584.1:c.273T>C	ENSP00000447707.2:p.Asn91=
ENST00000547314.5:c.273T>C	ENSP00000449934.1:p.Asn91=
ENST00000548365.5:c.285T>C	ENSP00000448518.1:p.Asn95=
ENST00000549021.5:c.136+3545T>C	ENSP00000449028.1:n.136+3545T>C
ENST00000549766.5:c.492T>C	ENSP00000446685.1:p.Asn164=
ENST00000550253.1:c.273T>C	ENSP00000450052.1:p.Asn91=
ENST00000552516.5:c.492T>C	ENSP00000447297.1:p.Asn164=
ENST00000552573.6:c.285T>C	ENSP00000447182.2:p.Asn95=
NM_001130916.1:c.343+3545T>C	NP_001124388.1:n.343+3545T>C
NM_001130916.2:c.343+3545T>C	NP_001124388.1:n.343+3545T>C
NM_001306210.1:c.492T>C	NP_001293139.1:p.Asn164=
NM_004612.2:c.480T>C	NP_004603.1:p.Asn160=
NM_004612.3:c.480T>C	NP_004603.1:p.Asn160=
XM_011518948.1:c.285T>C	XP_011517250.1:p.Asn95=
XM_011518949.1:c.273T>C	XP_011517251.1:p.Asn91=
XM_011518950.1:c.136+3545T>C	XP_011517252.1:n.136+3545T>C
XM_011518948.2:c.285T>C	XP_011517250.1:p.Asn95=
XM_011518949.2:c.273T>C	XP_011517251.1:p.Asn91=
XM_011518950.2:c.136+3545T>C	XP_011517252.1:n.136+3545T>C
XM_017015063.1:c.285T>C	XP_016870552.1:p.Asn95=
XM_024447658.1:c.273T>C	XP_024303426.1:p.Asn91=
NM_004612.4:c.480T>C MANE Select	NP_004603.1:p.Asn160=
NM_001130916.3:c.343+3545T>C	NP_001124388.1:n.343+3545T>C
NM_001306210.2:c.492T>C	NP_001293139.1:p.Asn164=