Canonical Allele Identifier: CA374232723

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101908792G>C (hg19) ; chr9:g.99146510G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146510G>C , CM000671.2:g.99146510G>C	GRCh38
NC_000009.11:g.101908792G>C , CM000671.1:g.101908792G>C	GRCh37
NC_000009.10:g.100948613G>C	NCBI36
NG_007461.1:g.46381G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.949G>C	ENSP00000449934.2:p.Asp317His
ENST00000552573.7:c.961G>C	ENSP00000447182.3:p.Asp321His
ENST00000548365.6:c.*78G>C	ENSP00000448518.2:n.*78G>C
ENST00000549021.6:c.718G>C	ENSP00000449028.2:p.Asp240His
ENST00000698941.1:c.961G>C	ENSP00000514048.1:p.Asp321His
ENST00000698942.1:c.*952G>C	ENSP00000514049.1:n.*952G>C
ENST00000374994.9:c.1156G>C MANE Select	ENSP00000364133.4:p.Asp386His
ENST00000374990.6:c.925G>C	ENSP00000364129.2:p.Asp309His
ENST00000374994.8:c.1156G>C	ENSP00000364133.4:p.Asp386His
ENST00000549766.5:c.1143-1144G>C	ENSP00000446685.1:n.1143-1144G>C
ENST00000550253.1:c.949G>C	ENSP00000450052.1:p.Asp317His
ENST00000552516.5:c.1168G>C	ENSP00000447297.1:p.Asp390His
NM_001130916.1:c.925G>C	NP_001124388.1:p.Asp309His
NM_001130916.2:c.925G>C	NP_001124388.1:p.Asp309His
NM_001306210.1:c.1168G>C	NP_001293139.1:p.Asp390His
NM_004612.2:c.1156G>C	NP_004603.1:p.Asp386His
NM_004612.3:c.1156G>C	NP_004603.1:p.Asp386His
XM_011518948.1:c.961G>C	XP_011517250.1:p.Asp321His
XM_011518949.1:c.949G>C	XP_011517251.1:p.Asp317His
XM_011518950.1:c.718G>C	XP_011517252.1:p.Asp240His
XM_011518948.2:c.961G>C	XP_011517250.1:p.Asp321His
XM_011518949.2:c.949G>C	XP_011517251.1:p.Asp317His
XM_011518950.2:c.718G>C	XP_011517252.1:p.Asp240His
XM_017015063.1:c.961G>C	XP_016870552.1:p.Asp321His
XM_024447658.1:c.949G>C	XP_024303426.1:p.Asp317His
NM_004612.4:c.1156G>C MANE Select	NP_004603.1:p.Asp386His
NM_001130916.3:c.925G>C	NP_001124388.1:p.Asp309His
NM_001306210.2:c.1168G>C	NP_001293139.1:p.Asp390His