Canonical Allele Identifier: CA320416
Gene: TGFBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213883
dbSNP Id: rs863223818

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99142704G>A , CM000671.2:g.99142704G>A GRCh38
NC_000009.11:g.101904986G>A , CM000671.1:g.101904986G>A GRCh37
NC_000009.10:g.100944807G>A NCBI36
NG_007461.1:g.42575G>A

Transcript Alleles

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