Canonical Allele Identifier: CA2739264892

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 2791319
• ClinVar RCV Id: RCV003643263

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142722C>G , CM000671.2:g.99142722C>G	GRCh38
NC_000009.11:g.101905004C>G , CM000671.1:g.101905004C>G	GRCh37
NC_000009.10:g.100944825C>G	NCBI36
NG_007461.1:g.42593C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.766+19C>G	ENSP00000449934.2:n.766+19C>G
ENST00000552573.7:c.778+19C>G	ENSP00000447182.3:n.778+19C>G
ENST00000548365.6:c.547+19C>G	ENSP00000448518.2:n.547+19C>G
ENST00000549021.6:c.535+19C>G	ENSP00000449028.2:n.535+19C>G
ENST00000698941.1:c.778+19C>G	ENSP00000514048.1:n.778+19C>G
ENST00000698942.1:c.*769+19C>G	ENSP00000514049.1:n.*769+19C>G
ENST00000374994.9:c.973+19C>G MANE Select	ENSP00000364133.4:n.973+19C>G
ENST00000374990.6:c.742+19C>G	ENSP00000364129.2:n.742+19C>G
ENST00000374994.8:c.973+19C>G	ENSP00000364133.4:n.973+19C>G
ENST00000549766.5:c.985+19C>G	ENSP00000446685.1:n.985+19C>G
ENST00000550253.1:c.766+19C>G	ENSP00000450052.1:n.766+19C>G
ENST00000552516.5:c.985+19C>G	ENSP00000447297.1:n.985+19C>G
NM_001130916.1:c.742+19C>G	NP_001124388.1:n.742+19C>G
NM_001130916.2:c.742+19C>G	NP_001124388.1:n.742+19C>G
NM_001306210.1:c.985+19C>G	NP_001293139.1:n.985+19C>G
NM_004612.2:c.973+19C>G	NP_004603.1:n.973+19C>G
NM_004612.3:c.973+19C>G	NP_004603.1:n.973+19C>G
XM_011518948.1:c.778+19C>G	XP_011517250.1:n.778+19C>G
XM_011518949.1:c.766+19C>G	XP_011517251.1:n.766+19C>G
XM_011518950.1:c.535+19C>G	XP_011517252.1:n.535+19C>G
XM_011518948.2:c.778+19C>G	XP_011517250.1:n.778+19C>G
XM_011518949.2:c.766+19C>G	XP_011517251.1:n.766+19C>G
XM_011518950.2:c.535+19C>G	XP_011517252.1:n.535+19C>G
XM_017015063.1:c.778+19C>G	XP_016870552.1:n.778+19C>G
XM_024447658.1:c.766+19C>G	XP_024303426.1:n.766+19C>G
NM_004612.4:c.973+19C>G MANE Select	NP_004603.1:n.973+19C>G
NM_001130916.3:c.742+19C>G	NP_001124388.1:n.742+19C>G
NM_001306210.2:c.985+19C>G	NP_001293139.1:n.985+19C>G