Canonical Allele Identifier: CA16605589

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99138017G>A , CM000671.2:g.99138017G>A	GRCh38
NC_000009.11:g.101900299G>A , CM000671.1:g.101900299G>A	GRCh37
NC_000009.10:g.100940120G>A	NCBI36
NG_007461.1:g.37888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.526G>A	ENSP00000449934.2:p.Glu176Lys
ENST00000552573.7:c.538G>A	ENSP00000447182.3:p.Glu180Lys
ENST00000548365.6:c.380-4519G>A	ENSP00000448518.2:n.380-4519G>A
ENST00000549021.6:c.295G>A	ENSP00000449028.2:p.Glu99Lys
ENST00000698941.1:c.538G>A	ENSP00000514048.1:p.Glu180Lys
ENST00000698942.1:c.*529G>A	ENSP00000514049.1:n.*529G>A
ENST00000374994.9:c.733G>A MANE Select	ENSP00000364133.4:p.Glu245Lys
ENST00000374990.6:c.502G>A	ENSP00000364129.2:p.Glu168Lys
ENST00000374994.8:c.733G>A	ENSP00000364133.4:p.Glu245Lys
ENST00000549021.5:c.295G>A	ENSP00000449028.1:p.Glu99Lys
ENST00000549766.5:c.745G>A	ENSP00000446685.1:p.Glu249Lys
ENST00000550253.1:c.526G>A	ENSP00000450052.1:p.Glu176Lys
ENST00000552516.5:c.745G>A	ENSP00000447297.1:p.Glu249Lys
NM_001130916.1:c.502G>A	NP_001124388.1:p.Glu168Lys
NM_001130916.2:c.502G>A	NP_001124388.1:p.Glu168Lys
NM_001306210.1:c.745G>A	NP_001293139.1:p.Glu249Lys
NM_004612.2:c.733G>A	NP_004603.1:p.Glu245Lys
NM_004612.3:c.733G>A	NP_004603.1:p.Glu245Lys
XM_011518948.1:c.538G>A	XP_011517250.1:p.Glu180Lys
XM_011518949.1:c.526G>A	XP_011517251.1:p.Glu176Lys
XM_011518950.1:c.295G>A	XP_011517252.1:p.Glu99Lys
XM_011518948.2:c.538G>A	XP_011517250.1:p.Glu180Lys
XM_011518949.2:c.526G>A	XP_011517251.1:p.Glu176Lys
XM_011518950.2:c.295G>A	XP_011517252.1:p.Glu99Lys
XM_017015063.1:c.538G>A	XP_016870552.1:p.Glu180Lys
XM_024447658.1:c.526G>A	XP_024303426.1:p.Glu176Lys
NM_004612.4:c.733G>A MANE Select	NP_004603.1:p.Glu245Lys
NM_001130916.3:c.502G>A	NP_001124388.1:p.Glu168Lys
NM_001306210.2:c.745G>A	NP_001293139.1:p.Glu249Lys