Canonical Allele Identifier: CA1127255329

Gene: TGFBR1

Linked Data

• dbSNP Id: rs1564182997
• gnomAD v3: 9-99151385-G-GTTT
• gnomAD v4: 9-99151385-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151385_99151386insTTT , CM000671.2:g.99151385_99151386insTTT	GRCh38
NC_000009.11:g.101913667_101913668insTTT , CM000671.1:g.101913667_101913668insTTT	GRCh37
NC_000009.10:g.100953488_100953489insTTT	NCBI36
NG_007461.1:g.51256_51257insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.*2080_*2081insTTT	ENSP00000449934.2:n.*2080_*2081insTTT
ENST00000552573.7:c.*2080_*2081insTTT	ENSP00000447182.3:n.*2080_*2081insTTT
ENST00000374994.9:c.*2080_*2081insTTT MANE Select	ENSP00000364133.4:n.*2080_*2081insTTT
ENST00000374990.6:c.*2080_*2081insTTT	ENSP00000364129.2:n.*2080_*2081insTTT
ENST00000374994.8:c.*2080_*2081insTTT	ENSP00000364133.4:n.*2080_*2081insTTT
ENST00000552516.5:c.*2080_*2081insTTT	ENSP00000447297.1:n.*2080_*2081insTTT
NM_001130916.1:c.*2080_*2081insTTT	NP_001124388.1:n.*2080_*2081insTTT
NM_001130916.2:c.*2080_*2081insTTT	NP_001124388.1:n.*2080_*2081insTTT
NM_001306210.1:c.*2080_*2081insTTT	NP_001293139.1:n.*2080_*2081insTTT
NM_004612.2:c.*2080_*2081insTTT	NP_004603.1:n.*2080_*2081insTTT
NM_004612.3:c.*2080_*2081insTTT	NP_004603.1:n.*2080_*2081insTTT
XM_011518948.1:c.*2080_*2081insTTT	XP_011517250.1:n.*2080_*2081insTTT
XM_011518949.1:c.*2080_*2081insTTT	XP_011517251.1:n.*2080_*2081insTTT
XM_011518950.1:c.*2080_*2081insTTT	XP_011517252.1:n.*2080_*2081insTTT
NM_004612.4:c.*2080_*2081insTTT MANE Select	NP_004603.1:n.*2080_*2081insTTT
NM_001130916.3:c.*2080_*2081insTTT	NP_001124388.1:n.*2080_*2081insTTT
NM_001306210.2:c.*2080_*2081insTTT	NP_001293139.1:n.*2080_*2081insTTT