Canonical Allele Identifier: CA869139130
Gene: TGFBR1 HGNC NCBI

Linked Data

dbSNP Id: rs749921376
gnomAD v3: 9-99142864-G-T
gnomAD v4: 9-99142864-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99142864G>T , CM000671.2:g.99142864G>T GRCh38
NC_000009.11:g.101905146G>T , CM000671.1:g.101905146G>T GRCh37
NC_000009.10:g.100944967G>T NCBI36
NG_007461.1:g.42735G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.766+161G>T ENSP00000449934.2:n.766+161G>T
ENST00000552573.7:c.778+161G>T ENSP00000447182.3:n.778+161G>T
ENST00000548365.6:c.547+161G>T ENSP00000448518.2:n.547+161G>T
ENST00000549021.6:c.535+161G>T ENSP00000449028.2:n.535+161G>T
ENST00000698941.1:c.778+161G>T ENSP00000514048.1:n.778+161G>T
ENST00000698942.1:c.*769+161G>T ENSP00000514049.1:n.*769+161G>T
ENST00000374994.9:c.973+161G>T MANE Select ENSP00000364133.4:n.973+161G>T
ENST00000374990.6:c.742+161G>T ENSP00000364129.2:n.742+161G>T
ENST00000374994.8:c.973+161G>T ENSP00000364133.4:n.973+161G>T
ENST00000549766.5:c.985+161G>T ENSP00000446685.1:n.985+161G>T
ENST00000550253.1:c.766+161G>T ENSP00000450052.1:n.766+161G>T
ENST00000552516.5:c.985+161G>T ENSP00000447297.1:n.985+161G>T
NM_001130916.1:c.742+161G>T NP_001124388.1:n.742+161G>T
NM_001130916.2:c.742+161G>T NP_001124388.1:n.742+161G>T
NM_001306210.1:c.985+161G>T NP_001293139.1:n.985+161G>T
NM_004612.2:c.973+161G>T NP_004603.1:n.973+161G>T
NM_004612.3:c.973+161G>T NP_004603.1:n.973+161G>T
XM_011518948.1:c.778+161G>T XP_011517250.1:n.778+161G>T
XM_011518949.1:c.766+161G>T XP_011517251.1:n.766+161G>T
XM_011518950.1:c.535+161G>T XP_011517252.1:n.535+161G>T
XM_011518948.2:c.778+161G>T XP_011517250.1:n.778+161G>T
XM_011518949.2:c.766+161G>T XP_011517251.1:n.766+161G>T
XM_011518950.2:c.535+161G>T XP_011517252.1:n.535+161G>T
XM_017015063.1:c.778+161G>T XP_016870552.1:n.778+161G>T
XM_024447658.1:c.766+161G>T XP_024303426.1:n.766+161G>T
NM_004612.4:c.973+161G>T MANE Select NP_004603.1:n.973+161G>T
NM_001130916.3:c.742+161G>T NP_001124388.1:n.742+161G>T
NM_001306210.2:c.985+161G>T NP_001293139.1:n.985+161G>T