Canonical Allele Identifier: CA374230518

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142551C>G , CM000671.2:g.99142551C>G	GRCh38
NC_000009.11:g.101904833C>G , CM000671.1:g.101904833C>G	GRCh37
NC_000009.10:g.100944654C>G	NCBI36
NG_007461.1:g.42422C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004612.4:c.821C>G MANE Select	NP_004603.1:p.Thr274Ser
ENST00000374994.9:c.821C>G MANE Select	ENSP00000364133.4:p.Thr274Ser
NM_001130916.1:c.590C>G	NP_001124388.1:p.Thr197Ser
NM_001130916.2:c.590C>G	NP_001124388.1:p.Thr197Ser
NM_001130916.3:c.590C>G	NP_001124388.1:p.Thr197Ser
NM_001306210.1:c.833C>G	NP_001293139.1:p.Thr278Ser
NM_001306210.2:c.833C>G	NP_001293139.1:p.Thr278Ser
NM_004612.2:c.821C>G	NP_004603.1:p.Thr274Ser
NM_004612.3:c.821C>G	NP_004603.1:p.Thr274Ser
ENST00000374990.6:c.590C>G	ENSP00000364129.2:p.Thr197Ser
ENST00000374994.8:c.821C>G	ENSP00000364133.4:p.Thr274Ser
ENST00000547314.6:c.614C>G	ENSP00000449934.2:p.Thr205Ser
ENST00000548365.6:c.395C>G	ENSP00000448518.2:p.Thr132Ser
ENST00000549021.6:c.383C>G	ENSP00000449028.2:p.Thr128Ser
ENST00000549766.5:c.833C>G	ENSP00000446685.1:p.Thr278Ser
ENST00000550253.1:c.614C>G	ENSP00000450052.1:p.Thr205Ser
ENST00000552516.5:c.833C>G	ENSP00000447297.1:p.Thr278Ser
ENST00000552573.7:c.626C>G	ENSP00000447182.3:p.Thr209Ser
ENST00000698941.1:c.626C>G	ENSP00000514048.1:p.Thr209Ser
ENST00000698942.1:c.*617C>G	ENSP00000514049.1:n.*617C>G
XM_011518948.1:c.626C>G	XP_011517250.1:p.Thr209Ser
XM_011518948.2:c.626C>G	XP_011517250.1:p.Thr209Ser
XM_011518949.1:c.614C>G	XP_011517251.1:p.Thr205Ser
XM_011518949.2:c.614C>G	XP_011517251.1:p.Thr205Ser
XM_011518950.1:c.383C>G	XP_011517252.1:p.Thr128Ser
XM_011518950.2:c.383C>G	XP_011517252.1:p.Thr128Ser
XM_017015063.1:c.626C>G	XP_016870552.1:p.Thr209Ser
XM_024447658.1:c.614C>G	XP_024303426.1:p.Thr205Ser