Canonical Allele Identifier: CA008874

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 29917
• ClinVar RCV Id: RCV000022804
• dbSNP Id: rs587776866
• MyVariant Identifiers: chr9:g.101904816A>C (hg19) ; chr9:g.99142534A>C (hg38)
• PubMed: PMID:21358634

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142534A>C , CM000671.2:g.99142534A>C	GRCh38
NC_000009.11:g.101904816A>C , CM000671.1:g.101904816A>C	GRCh37
NC_000009.10:g.100944637A>C	NCBI36
NG_007461.1:g.42405A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.599-2A>C	ENSP00000449934.2:n.599-2A>C
ENST00000552573.7:c.611-2A>C	ENSP00000447182.3:n.611-2A>C
ENST00000548365.6:c.380-2A>C	ENSP00000448518.2:n.380-2A>C
ENST00000549021.6:c.368-2A>C	ENSP00000449028.2:n.368-2A>C
ENST00000698941.1:c.611-2A>C	ENSP00000514048.1:n.611-2A>C
ENST00000698942.1:c.*602-2A>C	ENSP00000514049.1:n.*602-2A>C
ENST00000374994.9:c.806-2A>C MANE Select	ENSP00000364133.4:n.806-2A>C
ENST00000374990.6:c.575-2A>C	ENSP00000364129.2:n.575-2A>C
ENST00000374994.8:c.806-2A>C	ENSP00000364133.4:n.806-2A>C
ENST00000549766.5:c.818-2A>C	ENSP00000446685.1:n.818-2A>C
ENST00000550253.1:c.599-2A>C	ENSP00000450052.1:n.599-2A>C
ENST00000552516.5:c.818-2A>C	ENSP00000447297.1:n.818-2A>C
NM_001130916.1:c.575-2A>C	NP_001124388.1:n.575-2A>C
NM_001130916.2:c.575-2A>C	NP_001124388.1:n.575-2A>C
NM_001306210.1:c.818-2A>C	NP_001293139.1:n.818-2A>C
NM_004612.2:c.806-2A>C	NP_004603.1:n.806-2A>C
NM_004612.3:c.806-2A>C	NP_004603.1:n.806-2A>C
XM_011518948.1:c.611-2A>C	XP_011517250.1:n.611-2A>C
XM_011518949.1:c.599-2A>C	XP_011517251.1:n.599-2A>C
XM_011518950.1:c.368-2A>C	XP_011517252.1:n.368-2A>C
XM_011518948.2:c.611-2A>C	XP_011517250.1:n.611-2A>C
XM_011518949.2:c.599-2A>C	XP_011517251.1:n.599-2A>C
XM_011518950.2:c.368-2A>C	XP_011517252.1:n.368-2A>C
XM_017015063.1:c.611-2A>C	XP_016870552.1:n.611-2A>C
XM_024447658.1:c.599-2A>C	XP_024303426.1:n.599-2A>C
NM_004612.4:c.806-2A>C MANE Select	NP_004603.1:n.806-2A>C
NM_001130916.3:c.575-2A>C	NP_001124388.1:n.575-2A>C
NM_001306210.2:c.818-2A>C	NP_001293139.1:n.818-2A>C