Canonical Allele Identifier: CA918517500

Gene: TGFBR1

Linked Data

• dbSNP Id: rs1588600992

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151490_99151493dup , CM000671.2:g.99151490_99151493dup	GRCh38
NC_000009.11:g.101913772_101913775dup , CM000671.1:g.101913772_101913775dup	GRCh37
NC_000009.10:g.100953593_100953596dup	NCBI36
NG_007461.1:g.51361_51364dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*2185_*2188dup	ENSP00000449934.2:n.*2185_*2188dup
ENST00000552573.7:c.*2185_*2188dup	ENSP00000447182.3:n.*2185_*2188dup
ENST00000374994.9:c.*2185_*2188dup MANE Select	ENSP00000364133.4:n.*2185_*2188dup
ENST00000374990.6:c.*2185_*2188dup	ENSP00000364129.2:n.*2185_*2188dup
ENST00000374994.8:c.*2185_*2188dup	ENSP00000364133.4:n.*2185_*2188dup
ENST00000552516.5:c.*2185_*2188dup	ENSP00000447297.1:n.*2185_*2188dup
NM_001130916.1:c.*2185_*2188dup	NP_001124388.1:n.*2185_*2188dup
NM_001130916.2:c.*2185_*2188dup	NP_001124388.1:n.*2185_*2188dup
NM_001306210.1:c.*2185_*2188dup	NP_001293139.1:n.*2185_*2188dup
NM_004612.2:c.*2185_*2188dup	NP_004603.1:n.*2185_*2188dup
NM_004612.3:c.*2185_*2188dup	NP_004603.1:n.*2185_*2188dup
XM_011518948.1:c.*2185_*2188dup	XP_011517250.1:n.*2185_*2188dup
XM_011518949.1:c.*2185_*2188dup	XP_011517251.1:n.*2185_*2188dup
XM_011518950.1:c.*2185_*2188dup	XP_011517252.1:n.*2185_*2188dup
NM_004612.4:c.*2185_*2188dup MANE Select	NP_004603.1:n.*2185_*2188dup
NM_001130916.3:c.*2185_*2188dup	NP_001124388.1:n.*2185_*2188dup
NM_001306210.2:c.*2185_*2188dup	NP_001293139.1:n.*2185_*2188dup