Canonical Allele Identifier: CA374230641

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101904888A>C (hg19) ; chr9:g.99142606A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142606A>C , CM000671.2:g.99142606A>C	GRCh38
NC_000009.11:g.101904888A>C , CM000671.1:g.101904888A>C	GRCh37
NC_000009.10:g.100944709A>C	NCBI36
NG_007461.1:g.42477A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.669A>C	ENSP00000449934.2:p.Leu223Phe
ENST00000552573.7:c.681A>C	ENSP00000447182.3:p.Leu227Phe
ENST00000548365.6:c.450A>C	ENSP00000448518.2:p.Leu150Phe
ENST00000549021.6:c.438A>C	ENSP00000449028.2:p.Leu146Phe
ENST00000698941.1:c.681A>C	ENSP00000514048.1:p.Leu227Phe
ENST00000698942.1:c.*672A>C	ENSP00000514049.1:n.*672A>C
ENST00000374994.9:c.876A>C MANE Select	ENSP00000364133.4:p.Leu292Phe
ENST00000374990.6:c.645A>C	ENSP00000364129.2:p.Leu215Phe
ENST00000374994.8:c.876A>C	ENSP00000364133.4:p.Leu292Phe
ENST00000549766.5:c.888A>C	ENSP00000446685.1:p.Leu296Phe
ENST00000550253.1:c.669A>C	ENSP00000450052.1:p.Leu223Phe
ENST00000552516.5:c.888A>C	ENSP00000447297.1:p.Leu296Phe
NM_001130916.1:c.645A>C	NP_001124388.1:p.Leu215Phe
NM_001130916.2:c.645A>C	NP_001124388.1:p.Leu215Phe
NM_001306210.1:c.888A>C	NP_001293139.1:p.Leu296Phe
NM_004612.2:c.876A>C	NP_004603.1:p.Leu292Phe
NM_004612.3:c.876A>C	NP_004603.1:p.Leu292Phe
XM_011518948.1:c.681A>C	XP_011517250.1:p.Leu227Phe
XM_011518949.1:c.669A>C	XP_011517251.1:p.Leu223Phe
XM_011518950.1:c.438A>C	XP_011517252.1:p.Leu146Phe
XM_011518948.2:c.681A>C	XP_011517250.1:p.Leu227Phe
XM_011518949.2:c.669A>C	XP_011517251.1:p.Leu223Phe
XM_011518950.2:c.438A>C	XP_011517252.1:p.Leu146Phe
XM_017015063.1:c.681A>C	XP_016870552.1:p.Leu227Phe
XM_024447658.1:c.669A>C	XP_024303426.1:p.Leu223Phe
NM_004612.4:c.876A>C MANE Select	NP_004603.1:p.Leu292Phe
NM_001130916.3:c.645A>C	NP_001124388.1:p.Leu215Phe
NM_001306210.2:c.888A>C	NP_001293139.1:p.Leu296Phe