Canonical Allele Identifier: CA374230759

Gene: TGFBR1

Linked Data

• gnomAD v4: 9-99142662-G-A
• MyVariant Identifiers: chr9:g.101904944G>A (hg19) ; chr9:g.99142662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142662G>A , CM000671.2:g.99142662G>A	GRCh38
NC_000009.11:g.101904944G>A , CM000671.1:g.101904944G>A	GRCh37
NC_000009.10:g.100944765G>A	NCBI36
NG_007461.1:g.42533G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.725G>A	ENSP00000449934.2:p.Ser242Asn
ENST00000552573.7:c.737G>A	ENSP00000447182.3:p.Ser246Asn
ENST00000548365.6:c.506G>A	ENSP00000448518.2:p.Ser169Asn
ENST00000549021.6:c.494G>A	ENSP00000449028.2:p.Ser165Asn
ENST00000698941.1:c.737G>A	ENSP00000514048.1:p.Ser246Asn
ENST00000698942.1:c.*728G>A	ENSP00000514049.1:n.*728G>A
ENST00000374994.9:c.932G>A MANE Select	ENSP00000364133.4:p.Ser311Asn
ENST00000374990.6:c.701G>A	ENSP00000364129.2:p.Ser234Asn
ENST00000374994.8:c.932G>A	ENSP00000364133.4:p.Ser311Asn
ENST00000549766.5:c.944G>A	ENSP00000446685.1:p.Ser315Asn
ENST00000550253.1:c.725G>A	ENSP00000450052.1:p.Ser242Asn
ENST00000552516.5:c.944G>A	ENSP00000447297.1:p.Ser315Asn
NM_001130916.1:c.701G>A	NP_001124388.1:p.Ser234Asn
NM_001130916.2:c.701G>A	NP_001124388.1:p.Ser234Asn
NM_001306210.1:c.944G>A	NP_001293139.1:p.Ser315Asn
NM_004612.2:c.932G>A	NP_004603.1:p.Ser311Asn
NM_004612.3:c.932G>A	NP_004603.1:p.Ser311Asn
XM_011518948.1:c.737G>A	XP_011517250.1:p.Ser246Asn
XM_011518949.1:c.725G>A	XP_011517251.1:p.Ser242Asn
XM_011518950.1:c.494G>A	XP_011517252.1:p.Ser165Asn
XM_011518948.2:c.737G>A	XP_011517250.1:p.Ser246Asn
XM_011518949.2:c.725G>A	XP_011517251.1:p.Ser242Asn
XM_011518950.2:c.494G>A	XP_011517252.1:p.Ser165Asn
XM_017015063.1:c.737G>A	XP_016870552.1:p.Ser246Asn
XM_024447658.1:c.725G>A	XP_024303426.1:p.Ser242Asn
NM_004612.4:c.932G>A MANE Select	NP_004603.1:p.Ser311Asn
NM_001130916.3:c.701G>A	NP_001124388.1:p.Ser234Asn
NM_001306210.2:c.944G>A	NP_001293139.1:p.Ser315Asn