Canonical Allele Identifier: CA043498

Gene: TGFBR1

Linked Data

• dbSNP Id: rs760419678
• ExAC: 9:101904970 A / C
• gnomAD v2: 9-101904970-A-C
• gnomAD v4: 9-99142688-A-C
• MyVariant Identifiers: chr9:g.101904970A>C (hg19) ; chr9:g.99142688A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142688A>C , CM000671.2:g.99142688A>C	GRCh38
NC_000009.11:g.101904970A>C , CM000671.1:g.101904970A>C	GRCh37
NC_000009.10:g.100944791A>C	NCBI36
NG_007461.1:g.42559A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.751A>C	ENSP00000449934.2:p.Ile251Leu
ENST00000552573.7:c.763A>C	ENSP00000447182.3:p.Ile255Leu
ENST00000548365.6:c.532A>C	ENSP00000448518.2:p.Ile178Leu
ENST00000549021.6:c.520A>C	ENSP00000449028.2:p.Ile174Leu
ENST00000698941.1:c.763A>C	ENSP00000514048.1:p.Ile255Leu
ENST00000698942.1:c.*754A>C	ENSP00000514049.1:n.*754A>C
ENST00000374994.9:c.958A>C MANE Select	ENSP00000364133.4:p.Ile320Leu
ENST00000374990.6:c.727A>C	ENSP00000364129.2:p.Ile243Leu
ENST00000374994.8:c.958A>C	ENSP00000364133.4:p.Ile320Leu
ENST00000549766.5:c.970A>C	ENSP00000446685.1:p.Ile324Leu
ENST00000550253.1:c.751A>C	ENSP00000450052.1:p.Ile251Leu
ENST00000552516.5:c.970A>C	ENSP00000447297.1:p.Ile324Leu
NM_001130916.1:c.727A>C	NP_001124388.1:p.Ile243Leu
NM_001130916.2:c.727A>C	NP_001124388.1:p.Ile243Leu
NM_001306210.1:c.970A>C	NP_001293139.1:p.Ile324Leu
NM_004612.2:c.958A>C	NP_004603.1:p.Ile320Leu
NM_004612.3:c.958A>C	NP_004603.1:p.Ile320Leu
XM_011518948.1:c.763A>C	XP_011517250.1:p.Ile255Leu
XM_011518949.1:c.751A>C	XP_011517251.1:p.Ile251Leu
XM_011518950.1:c.520A>C	XP_011517252.1:p.Ile174Leu
XM_011518948.2:c.763A>C	XP_011517250.1:p.Ile255Leu
XM_011518949.2:c.751A>C	XP_011517251.1:p.Ile251Leu
XM_011518950.2:c.520A>C	XP_011517252.1:p.Ile174Leu
XM_017015063.1:c.763A>C	XP_016870552.1:p.Ile255Leu
XM_024447658.1:c.751A>C	XP_024303426.1:p.Ile251Leu
NM_004612.4:c.958A>C MANE Select	NP_004603.1:p.Ile320Leu
NM_001130916.3:c.727A>C	NP_001124388.1:p.Ile243Leu
NM_001306210.2:c.970A>C	NP_001293139.1:p.Ile324Leu