Canonical Allele Identifier: CA374230696

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101904914G>C (hg19) ; chr9:g.99142632G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142632G>C , CM000671.2:g.99142632G>C	GRCh38
NC_000009.11:g.101904914G>C , CM000671.1:g.101904914G>C	GRCh37
NC_000009.10:g.100944735G>C	NCBI36
NG_007461.1:g.42503G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.695G>C	ENSP00000449934.2:p.Gly232Ala
ENST00000552573.7:c.707G>C	ENSP00000447182.3:p.Gly236Ala
ENST00000548365.6:c.476G>C	ENSP00000448518.2:p.Gly159Ala
ENST00000549021.6:c.464G>C	ENSP00000449028.2:p.Gly155Ala
ENST00000698941.1:c.707G>C	ENSP00000514048.1:p.Gly236Ala
ENST00000698942.1:c.*698G>C	ENSP00000514049.1:n.*698G>C
ENST00000374994.9:c.902G>C MANE Select	ENSP00000364133.4:p.Gly301Ala
ENST00000374990.6:c.671G>C	ENSP00000364129.2:p.Gly224Ala
ENST00000374994.8:c.902G>C	ENSP00000364133.4:p.Gly301Ala
ENST00000549766.5:c.914G>C	ENSP00000446685.1:p.Gly305Ala
ENST00000550253.1:c.695G>C	ENSP00000450052.1:p.Gly232Ala
ENST00000552516.5:c.914G>C	ENSP00000447297.1:p.Gly305Ala
NM_001130916.1:c.671G>C	NP_001124388.1:p.Gly224Ala
NM_001130916.2:c.671G>C	NP_001124388.1:p.Gly224Ala
NM_001306210.1:c.914G>C	NP_001293139.1:p.Gly305Ala
NM_004612.2:c.902G>C	NP_004603.1:p.Gly301Ala
NM_004612.3:c.902G>C	NP_004603.1:p.Gly301Ala
XM_011518948.1:c.707G>C	XP_011517250.1:p.Gly236Ala
XM_011518949.1:c.695G>C	XP_011517251.1:p.Gly232Ala
XM_011518950.1:c.464G>C	XP_011517252.1:p.Gly155Ala
XM_011518948.2:c.707G>C	XP_011517250.1:p.Gly236Ala
XM_011518949.2:c.695G>C	XP_011517251.1:p.Gly232Ala
XM_011518950.2:c.464G>C	XP_011517252.1:p.Gly155Ala
XM_017015063.1:c.707G>C	XP_016870552.1:p.Gly236Ala
XM_024447658.1:c.695G>C	XP_024303426.1:p.Gly232Ala
NM_004612.4:c.902G>C MANE Select	NP_004603.1:p.Gly301Ala
NM_001130916.3:c.671G>C	NP_001124388.1:p.Gly224Ala
NM_001306210.2:c.914G>C	NP_001293139.1:p.Gly305Ala