Canonical Allele Identifier: CA196851109
Community Standard Title: NM_004612.4(TGFBR1):c.*2846A>G
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99152151A>G , CM000671.2:g.99152151A>G GRCh38
NC_000009.11:g.101914433A>G , CM000671.1:g.101914433A>G GRCh37
NC_000009.10:g.100954254A>G NCBI36
NG_007461.1:g.52022A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004612.4:c.*2846A>G MANE Select NP_004603.1:n.*2846A>G
ENST00000374994.9:c.*2846A>G MANE Select ENSP00000364133.4:n.*2846A>G
NM_001130916.1:c.*2846A>G NP_001124388.1:n.*2846A>G
NM_001130916.2:c.*2846A>G NP_001124388.1:n.*2846A>G
NM_001130916.3:c.*2846A>G NP_001124388.1:n.*2846A>G
NM_001306210.1:c.*2846A>G NP_001293139.1:n.*2846A>G
NM_001306210.2:c.*2846A>G NP_001293139.1:n.*2846A>G
NM_004612.2:c.*2846A>G NP_004603.1:n.*2846A>G
NM_004612.3:c.*2846A>G NP_004603.1:n.*2846A>G
ENST00000374990.6:c.*2846A>G ENSP00000364129.2:n.*2846A>G
ENST00000374994.8:c.*2846A>G ENSP00000364133.4:n.*2846A>G
ENST00000547314.6:c.*2846A>G ENSP00000449934.2:n.*2846A>G
ENST00000552516.5:c.*2846A>G ENSP00000447297.1:n.*2846A>G
ENST00000552573.7:c.*2846A>G ENSP00000447182.3:n.*2846A>G
XM_011518948.1:c.*2846A>G XP_011517250.1:n.*2846A>G
XM_011518949.1:c.*2846A>G XP_011517251.1:n.*2846A>G
XM_011518950.1:c.*2846A>G XP_011517252.1:n.*2846A>G