Canonical Allele Identifier: CA374231494

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99144818C>A , CM000671.2:g.99144818C>A	GRCh38
NC_000009.11:g.101907100C>A , CM000671.1:g.101907100C>A	GRCh37
NC_000009.10:g.100946921C>A	NCBI36
NG_007461.1:g.44689C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.853C>A	ENSP00000449934.2:p.Leu285Met
ENST00000552573.7:c.865C>A	ENSP00000447182.3:p.Leu289Met
ENST00000548365.6:c.634C>A	ENSP00000448518.2:p.Leu212Met
ENST00000549021.6:c.622C>A	ENSP00000449028.2:p.Leu208Met
ENST00000698941.1:c.865C>A	ENSP00000514048.1:p.Leu289Met
ENST00000698942.1:c.*856C>A	ENSP00000514049.1:n.*856C>A
ENST00000374994.9:c.1060C>A MANE Select	ENSP00000364133.4:p.Leu354Met
ENST00000374990.6:c.829C>A	ENSP00000364129.2:p.Leu277Met
ENST00000374994.8:c.1060C>A	ENSP00000364133.4:p.Leu354Met
ENST00000549766.5:c.1072C>A	ENSP00000446685.1:p.Leu358Met
ENST00000550253.1:c.853C>A	ENSP00000450052.1:p.Leu285Met
ENST00000552516.5:c.1072C>A	ENSP00000447297.1:p.Leu358Met
NM_001130916.1:c.829C>A	NP_001124388.1:p.Leu277Met
NM_001130916.2:c.829C>A	NP_001124388.1:p.Leu277Met
NM_001306210.1:c.1072C>A	NP_001293139.1:p.Leu358Met
NM_004612.2:c.1060C>A	NP_004603.1:p.Leu354Met
NM_004612.3:c.1060C>A	NP_004603.1:p.Leu354Met
XM_011518948.1:c.865C>A	XP_011517250.1:p.Leu289Met
XM_011518949.1:c.853C>A	XP_011517251.1:p.Leu285Met
XM_011518950.1:c.622C>A	XP_011517252.1:p.Leu208Met
XM_011518948.2:c.865C>A	XP_011517250.1:p.Leu289Met
XM_011518949.2:c.853C>A	XP_011517251.1:p.Leu285Met
XM_011518950.2:c.622C>A	XP_011517252.1:p.Leu208Met
XM_017015063.1:c.865C>A	XP_016870552.1:p.Leu289Met
XM_024447658.1:c.853C>A	XP_024303426.1:p.Leu285Met
NM_004612.4:c.1060C>A MANE Select	NP_004603.1:p.Leu354Met
NM_001130916.3:c.829C>A	NP_001124388.1:p.Leu277Met
NM_001306210.2:c.1072C>A	NP_001293139.1:p.Leu358Met