Canonical Allele Identifier: CA322256

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 213901
• ClinVar RCV Id: RCV000197792 ; RCV001373794 ; RCV003982941
• dbSNP Id: rs863223833
• COSMIC: COSM5738683
• MyVariant Identifiers: chr9:g.101904977G>A (hg19) ; chr9:g.99142695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142695G>A , CM000671.2:g.99142695G>A	GRCh38
NC_000009.11:g.101904977G>A , CM000671.1:g.101904977G>A	GRCh37
NC_000009.10:g.100944798G>A	NCBI36
NG_007461.1:g.42566G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.758G>A	ENSP00000449934.2:p.Gly253Asp
ENST00000552573.7:c.770G>A	ENSP00000447182.3:p.Gly257Asp
ENST00000548365.6:c.539G>A	ENSP00000448518.2:p.Gly180Asp
ENST00000549021.6:c.527G>A	ENSP00000449028.2:p.Gly176Asp
ENST00000698941.1:c.770G>A	ENSP00000514048.1:p.Gly257Asp
ENST00000698942.1:c.*761G>A	ENSP00000514049.1:n.*761G>A
ENST00000374994.9:c.965G>A MANE Select	ENSP00000364133.4:p.Gly322Asp
ENST00000374990.6:c.734G>A	ENSP00000364129.2:p.Gly245Asp
ENST00000374994.8:c.965G>A	ENSP00000364133.4:p.Gly322Asp
ENST00000549766.5:c.977G>A	ENSP00000446685.1:p.Gly326Asp
ENST00000550253.1:c.758G>A	ENSP00000450052.1:p.Gly253Asp
ENST00000552516.5:c.977G>A	ENSP00000447297.1:p.Gly326Asp
NM_001130916.1:c.734G>A	NP_001124388.1:p.Gly245Asp
NM_001130916.2:c.734G>A	NP_001124388.1:p.Gly245Asp
NM_001306210.1:c.977G>A	NP_001293139.1:p.Gly326Asp
NM_004612.2:c.965G>A	NP_004603.1:p.Gly322Asp
NM_004612.3:c.965G>A	NP_004603.1:p.Gly322Asp
XM_011518948.1:c.770G>A	XP_011517250.1:p.Gly257Asp
XM_011518949.1:c.758G>A	XP_011517251.1:p.Gly253Asp
XM_011518950.1:c.527G>A	XP_011517252.1:p.Gly176Asp
XM_011518948.2:c.770G>A	XP_011517250.1:p.Gly257Asp
XM_011518949.2:c.758G>A	XP_011517251.1:p.Gly253Asp
XM_011518950.2:c.527G>A	XP_011517252.1:p.Gly176Asp
XM_017015063.1:c.770G>A	XP_016870552.1:p.Gly257Asp
XM_024447658.1:c.758G>A	XP_024303426.1:p.Gly253Asp
NM_004612.4:c.965G>A MANE Select	NP_004603.1:p.Gly322Asp
NM_001130916.3:c.734G>A	NP_001124388.1:p.Gly245Asp
NM_001306210.2:c.977G>A	NP_001293139.1:p.Gly326Asp