Canonical Allele Identifier: CA374230516

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142550A>T , CM000671.2:g.99142550A>T	GRCh38
NC_000009.11:g.101904832A>T , CM000671.1:g.101904832A>T	GRCh37
NC_000009.10:g.100944653A>T	NCBI36
NG_007461.1:g.42421A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004612.4:c.820A>T MANE Select	NP_004603.1:p.Thr274Ser
ENST00000374994.9:c.820A>T MANE Select	ENSP00000364133.4:p.Thr274Ser
NM_001130916.1:c.589A>T	NP_001124388.1:p.Thr197Ser
NM_001130916.2:c.589A>T	NP_001124388.1:p.Thr197Ser
NM_001130916.3:c.589A>T	NP_001124388.1:p.Thr197Ser
NM_001306210.1:c.832A>T	NP_001293139.1:p.Thr278Ser
NM_001306210.2:c.832A>T	NP_001293139.1:p.Thr278Ser
NM_004612.2:c.820A>T	NP_004603.1:p.Thr274Ser
NM_004612.3:c.820A>T	NP_004603.1:p.Thr274Ser
ENST00000374990.6:c.589A>T	ENSP00000364129.2:p.Thr197Ser
ENST00000374994.8:c.820A>T	ENSP00000364133.4:p.Thr274Ser
ENST00000547314.6:c.613A>T	ENSP00000449934.2:p.Thr205Ser
ENST00000548365.6:c.394A>T	ENSP00000448518.2:p.Thr132Ser
ENST00000549021.6:c.382A>T	ENSP00000449028.2:p.Thr128Ser
ENST00000549766.5:c.832A>T	ENSP00000446685.1:p.Thr278Ser
ENST00000550253.1:c.613A>T	ENSP00000450052.1:p.Thr205Ser
ENST00000552516.5:c.832A>T	ENSP00000447297.1:p.Thr278Ser
ENST00000552573.7:c.625A>T	ENSP00000447182.3:p.Thr209Ser
ENST00000698941.1:c.625A>T	ENSP00000514048.1:p.Thr209Ser
ENST00000698942.1:c.*616A>T	ENSP00000514049.1:n.*616A>T
XM_011518948.1:c.625A>T	XP_011517250.1:p.Thr209Ser
XM_011518948.2:c.625A>T	XP_011517250.1:p.Thr209Ser
XM_011518949.1:c.613A>T	XP_011517251.1:p.Thr205Ser
XM_011518949.2:c.613A>T	XP_011517251.1:p.Thr205Ser
XM_011518950.1:c.382A>T	XP_011517252.1:p.Thr128Ser
XM_011518950.2:c.382A>T	XP_011517252.1:p.Thr128Ser
XM_017015063.1:c.625A>T	XP_016870552.1:p.Thr209Ser
XM_024447658.1:c.613A>T	XP_024303426.1:p.Thr205Ser