Canonical Allele Identifier: CA374230677

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101904905C>A (hg19) ; chr9:g.99142623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142623C>A , CM000671.2:g.99142623C>A	GRCh38
NC_000009.11:g.101904905C>A , CM000671.1:g.101904905C>A	GRCh37
NC_000009.10:g.100944726C>A	NCBI36
NG_007461.1:g.42494C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.686C>A	ENSP00000449934.2:p.Thr229Asn
ENST00000552573.7:c.698C>A	ENSP00000447182.3:p.Thr233Asn
ENST00000548365.6:c.467C>A	ENSP00000448518.2:p.Thr156Asn
ENST00000549021.6:c.455C>A	ENSP00000449028.2:p.Thr152Asn
ENST00000698941.1:c.698C>A	ENSP00000514048.1:p.Thr233Asn
ENST00000698942.1:c.*689C>A	ENSP00000514049.1:n.*689C>A
ENST00000374994.9:c.893C>A MANE Select	ENSP00000364133.4:p.Thr298Asn
ENST00000374990.6:c.662C>A	ENSP00000364129.2:p.Thr221Asn
ENST00000374994.8:c.893C>A	ENSP00000364133.4:p.Thr298Asn
ENST00000549766.5:c.905C>A	ENSP00000446685.1:p.Thr302Asn
ENST00000550253.1:c.686C>A	ENSP00000450052.1:p.Thr229Asn
ENST00000552516.5:c.905C>A	ENSP00000447297.1:p.Thr302Asn
NM_001130916.1:c.662C>A	NP_001124388.1:p.Thr221Asn
NM_001130916.2:c.662C>A	NP_001124388.1:p.Thr221Asn
NM_001306210.1:c.905C>A	NP_001293139.1:p.Thr302Asn
NM_004612.2:c.893C>A	NP_004603.1:p.Thr298Asn
NM_004612.3:c.893C>A	NP_004603.1:p.Thr298Asn
XM_011518948.1:c.698C>A	XP_011517250.1:p.Thr233Asn
XM_011518949.1:c.686C>A	XP_011517251.1:p.Thr229Asn
XM_011518950.1:c.455C>A	XP_011517252.1:p.Thr152Asn
XM_011518948.2:c.698C>A	XP_011517250.1:p.Thr233Asn
XM_011518949.2:c.686C>A	XP_011517251.1:p.Thr229Asn
XM_011518950.2:c.455C>A	XP_011517252.1:p.Thr152Asn
XM_017015063.1:c.698C>A	XP_016870552.1:p.Thr233Asn
XM_024447658.1:c.686C>A	XP_024303426.1:p.Thr229Asn
NM_004612.4:c.893C>A MANE Select	NP_004603.1:p.Thr298Asn
NM_001130916.3:c.662C>A	NP_001124388.1:p.Thr221Asn
NM_001306210.2:c.905C>A	NP_001293139.1:p.Thr302Asn