Canonical Allele Identifier: CA2585297449
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353156C>G , CM000681.2:g.41353156C>G GRCh38
NC_000019.9:g.41859061C>G , CM000681.1:g.41859061C>G GRCh37
NC_000019.8:g.46550901C>G NCBI36
NG_013091.1:g.16018G>C
NG_013364.1:g.5771G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.-112G>C (TGFB1) MANE Select ENSP00000221930.4:n.-112G>C
ENST00000221930.5:c.-112G>C (TGFB1) ENSP00000221930.4:n.-112G>C
ENST00000539627.5:c.-30+1954C>G (TMEM91) ENSP00000441900.1:n.-30+1954C>G
ENST00000604424.1:n.350+1954C>G
NM_000660.5:c.-112G>C (TGFB1) NP_000651.3:n.-112G>C
XM_011527242.1:c.-112G>C (TGFB1) XP_011525544.1:n.-112G>C
NM_000660.6:c.-112G>C (TGFB1) NP_000651.3:n.-112G>C
XM_011527242.2:c.-112G>C (TGFB1) XP_011525544.1:n.-112G>C
NM_000660.7:c.-112G>C (TGFB1) MANE Select NP_000651.3:n.-112G>C