Canonical Allele Identifier: CA5156101

Gene: TGFBR1

Linked Data

• dbSNP Id: rs768604162
• ExAC: 9:101905004 C / CT
• gnomAD v2: 9-101905004-C-CT
• gnomAD v4: 9-99142722-C-CT
• MyVariant Identifiers: chr9:g.101905004_101905005insT (hg19) ; chr9:g.99142722_99142723insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142723dup , CM000671.2:g.99142723dup	GRCh38
NC_000009.11:g.101905005dup , CM000671.1:g.101905005dup	GRCh37
NC_000009.10:g.100944826dup	NCBI36
NG_007461.1:g.42594dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.766+20dup	ENSP00000449934.2:n.766+20dup
ENST00000552573.7:c.778+20dup	ENSP00000447182.3:n.778+20dup
ENST00000548365.6:c.547+20dup	ENSP00000448518.2:n.547+20dup
ENST00000549021.6:c.535+20dup	ENSP00000449028.2:n.535+20dup
ENST00000698941.1:c.778+20dup	ENSP00000514048.1:n.778+20dup
ENST00000698942.1:c.*769+20dup	ENSP00000514049.1:n.*769+20dup
ENST00000374994.9:c.973+20dup MANE Select	ENSP00000364133.4:n.973+20dup
ENST00000374990.6:c.742+20dup	ENSP00000364129.2:n.742+20dup
ENST00000374994.8:c.973+20dup	ENSP00000364133.4:n.973+20dup
ENST00000549766.5:c.985+20dup	ENSP00000446685.1:n.985+20dup
ENST00000550253.1:c.766+20dup	ENSP00000450052.1:n.766+20dup
ENST00000552516.5:c.985+20dup	ENSP00000447297.1:n.985+20dup
NM_001130916.1:c.742+20dup	NP_001124388.1:n.742+20dup
NM_001130916.2:c.742+20dup	NP_001124388.1:n.742+20dup
NM_001306210.1:c.985+20dup	NP_001293139.1:n.985+20dup
NM_004612.2:c.973+20dup	NP_004603.1:n.973+20dup
NM_004612.3:c.973+20dup	NP_004603.1:n.973+20dup
XM_011518948.1:c.778+20dup	XP_011517250.1:n.778+20dup
XM_011518949.1:c.766+20dup	XP_011517251.1:n.766+20dup
XM_011518950.1:c.535+20dup	XP_011517252.1:n.535+20dup
XM_011518948.2:c.778+20dup	XP_011517250.1:n.778+20dup
XM_011518949.2:c.766+20dup	XP_011517251.1:n.766+20dup
XM_011518950.2:c.535+20dup	XP_011517252.1:n.535+20dup
XM_017015063.1:c.778+20dup	XP_016870552.1:n.778+20dup
XM_024447658.1:c.766+20dup	XP_024303426.1:n.766+20dup
NM_004612.4:c.973+20dup MANE Select	NP_004603.1:n.973+20dup
NM_001130916.3:c.742+20dup	NP_001124388.1:n.742+20dup
NM_001306210.2:c.985+20dup	NP_001293139.1:n.985+20dup