Canonical Allele Identifier: CA043255

Gene: TGFBR1

Linked Data

• dbSNP Id: rs191136014
• ExAC: 9:101904883 T / C
• gnomAD v2: 9-101904883-T-C
• MyVariant Identifiers: chr9:g.101904883T>C (hg19) ; chr9:g.99142601T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142601T>C , CM000671.2:g.99142601T>C	GRCh38
NC_000009.11:g.101904883T>C , CM000671.1:g.101904883T>C	GRCh37
NC_000009.10:g.100944704T>C	NCBI36
NG_007461.1:g.42472T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.664T>C	ENSP00000449934.2:p.Tyr222His
ENST00000552573.7:c.676T>C	ENSP00000447182.3:p.Tyr226His
ENST00000548365.6:c.445T>C	ENSP00000448518.2:p.Tyr149His
ENST00000549021.6:c.433T>C	ENSP00000449028.2:p.Tyr145His
ENST00000698941.1:c.676T>C	ENSP00000514048.1:p.Tyr226His
ENST00000698942.1:c.*667T>C	ENSP00000514049.1:n.*667T>C
ENST00000374994.9:c.871T>C MANE Select	ENSP00000364133.4:p.Tyr291His
ENST00000374990.6:c.640T>C	ENSP00000364129.2:p.Tyr214His
ENST00000374994.8:c.871T>C	ENSP00000364133.4:p.Tyr291His
ENST00000549766.5:c.883T>C	ENSP00000446685.1:p.Tyr295His
ENST00000550253.1:c.664T>C	ENSP00000450052.1:p.Tyr222His
ENST00000552516.5:c.883T>C	ENSP00000447297.1:p.Tyr295His
NM_001130916.1:c.640T>C	NP_001124388.1:p.Tyr214His
NM_001130916.2:c.640T>C	NP_001124388.1:p.Tyr214His
NM_001306210.1:c.883T>C	NP_001293139.1:p.Tyr295His
NM_004612.2:c.871T>C	NP_004603.1:p.Tyr291His
NM_004612.3:c.871T>C	NP_004603.1:p.Tyr291His
XM_011518948.1:c.676T>C	XP_011517250.1:p.Tyr226His
XM_011518949.1:c.664T>C	XP_011517251.1:p.Tyr222His
XM_011518950.1:c.433T>C	XP_011517252.1:p.Tyr145His
XM_011518948.2:c.676T>C	XP_011517250.1:p.Tyr226His
XM_011518949.2:c.664T>C	XP_011517251.1:p.Tyr222His
XM_011518950.2:c.433T>C	XP_011517252.1:p.Tyr145His
XM_017015063.1:c.676T>C	XP_016870552.1:p.Tyr226His
XM_024447658.1:c.664T>C	XP_024303426.1:p.Tyr222His
NM_004612.4:c.871T>C MANE Select	NP_004603.1:p.Tyr291His
NM_001130916.3:c.640T>C	NP_001124388.1:p.Tyr214His
NM_001306210.2:c.883T>C	NP_001293139.1:p.Tyr295His