Canonical Allele Identifier: CA374230694

Gene: TGFBR1

Linked Data

• dbSNP Id: rs2118779291
• MyVariant Identifiers: chr9:g.101904913G>C (hg19) ; chr9:g.99142631G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142631G>C , CM000671.2:g.99142631G>C	GRCh38
NC_000009.11:g.101904913G>C , CM000671.1:g.101904913G>C	GRCh37
NC_000009.10:g.100944734G>C	NCBI36
NG_007461.1:g.42502G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.694G>C	ENSP00000449934.2:p.Gly232Arg
ENST00000552573.7:c.706G>C	ENSP00000447182.3:p.Gly236Arg
ENST00000548365.6:c.475G>C	ENSP00000448518.2:p.Gly159Arg
ENST00000549021.6:c.463G>C	ENSP00000449028.2:p.Gly155Arg
ENST00000698941.1:c.706G>C	ENSP00000514048.1:p.Gly236Arg
ENST00000698942.1:c.*697G>C	ENSP00000514049.1:n.*697G>C
ENST00000374994.9:c.901G>C MANE Select	ENSP00000364133.4:p.Gly301Arg
ENST00000374990.6:c.670G>C	ENSP00000364129.2:p.Gly224Arg
ENST00000374994.8:c.901G>C	ENSP00000364133.4:p.Gly301Arg
ENST00000549766.5:c.913G>C	ENSP00000446685.1:p.Gly305Arg
ENST00000550253.1:c.694G>C	ENSP00000450052.1:p.Gly232Arg
ENST00000552516.5:c.913G>C	ENSP00000447297.1:p.Gly305Arg
NM_001130916.1:c.670G>C	NP_001124388.1:p.Gly224Arg
NM_001130916.2:c.670G>C	NP_001124388.1:p.Gly224Arg
NM_001306210.1:c.913G>C	NP_001293139.1:p.Gly305Arg
NM_004612.2:c.901G>C	NP_004603.1:p.Gly301Arg
NM_004612.3:c.901G>C	NP_004603.1:p.Gly301Arg
XM_011518948.1:c.706G>C	XP_011517250.1:p.Gly236Arg
XM_011518949.1:c.694G>C	XP_011517251.1:p.Gly232Arg
XM_011518950.1:c.463G>C	XP_011517252.1:p.Gly155Arg
XM_011518948.2:c.706G>C	XP_011517250.1:p.Gly236Arg
XM_011518949.2:c.694G>C	XP_011517251.1:p.Gly232Arg
XM_011518950.2:c.463G>C	XP_011517252.1:p.Gly155Arg
XM_017015063.1:c.706G>C	XP_016870552.1:p.Gly236Arg
XM_024447658.1:c.694G>C	XP_024303426.1:p.Gly232Arg
NM_004612.4:c.901G>C MANE Select	NP_004603.1:p.Gly301Arg
NM_001130916.3:c.670G>C	NP_001124388.1:p.Gly224Arg
NM_001306210.2:c.913G>C	NP_001293139.1:p.Gly305Arg