Canonical Allele Identifier: CA374229796
Gene: TGFBR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99138006C>A , CM000671.2:g.99138006C>A GRCh38
NC_000009.11:g.101900288C>A , CM000671.1:g.101900288C>A GRCh37
NC_000009.10:g.100940109C>A NCBI36
NG_007461.1:g.37877C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.515C>A ENSP00000449934.2:p.Ser172Ter
ENST00000552573.7:c.527C>A ENSP00000447182.3:p.Ser176Ter
ENST00000548365.6:c.380-4530C>A ENSP00000448518.2:n.380-4530C>A
ENST00000549021.6:c.284C>A ENSP00000449028.2:p.Ser95Ter
ENST00000698941.1:c.527C>A ENSP00000514048.1:p.Ser176Ter
ENST00000698942.1:c.*518C>A ENSP00000514049.1:n.*518C>A
ENST00000374994.9:c.722C>A MANE Select ENSP00000364133.4:p.Ser241Ter
ENST00000374990.6:c.491C>A ENSP00000364129.2:p.Ser164Ter
ENST00000374994.8:c.722C>A ENSP00000364133.4:p.Ser241Ter
ENST00000549021.5:c.284C>A ENSP00000449028.1:p.Ser95Ter
ENST00000549766.5:c.734C>A ENSP00000446685.1:p.Ser245Ter
ENST00000550253.1:c.515C>A ENSP00000450052.1:p.Ser172Ter
ENST00000552516.5:c.734C>A ENSP00000447297.1:p.Ser245Ter
NM_001130916.1:c.491C>A NP_001124388.1:p.Ser164Ter
NM_001130916.2:c.491C>A NP_001124388.1:p.Ser164Ter
NM_001306210.1:c.734C>A NP_001293139.1:p.Ser245Ter
NM_004612.2:c.722C>A NP_004603.1:p.Ser241Ter
NM_004612.3:c.722C>A NP_004603.1:p.Ser241Ter
XM_011518948.1:c.527C>A XP_011517250.1:p.Ser176Ter
XM_011518949.1:c.515C>A XP_011517251.1:p.Ser172Ter
XM_011518950.1:c.284C>A XP_011517252.1:p.Ser95Ter
XM_011518948.2:c.527C>A XP_011517250.1:p.Ser176Ter
XM_011518949.2:c.515C>A XP_011517251.1:p.Ser172Ter
XM_011518950.2:c.284C>A XP_011517252.1:p.Ser95Ter
XM_017015063.1:c.527C>A XP_016870552.1:p.Ser176Ter
XM_024447658.1:c.515C>A XP_024303426.1:p.Ser172Ter
NM_004612.4:c.722C>A MANE Select NP_004603.1:p.Ser241Ter
NM_001130916.3:c.491C>A NP_001124388.1:p.Ser164Ter
NM_001306210.2:c.734C>A NP_001293139.1:p.Ser245Ter
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