Canonical Allele Identifier: CA2585297468
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

gnomAD v4: 19-41353174-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353174C>T , CM000681.2:g.41353174C>T GRCh38
NC_000019.9:g.41859079C>T , CM000681.1:g.41859079C>T GRCh37
NC_000019.8:g.46550919C>T NCBI36
NG_013091.1:g.16000G>A
NG_013364.1:g.5753G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.-130G>A (TGFB1) MANE Select ENSP00000221930.4:n.-130G>A
ENST00000221930.5:c.-130G>A (TGFB1) ENSP00000221930.4:n.-130G>A
ENST00000539627.5:c.-30+1972C>T (TMEM91) ENSP00000441900.1:n.-30+1972C>T
ENST00000604424.1:n.350+1972C>T
NM_000660.5:c.-130G>A (TGFB1) NP_000651.3:n.-130G>A
XM_011527242.1:c.-130G>A (TGFB1) XP_011525544.1:n.-130G>A
NM_000660.6:c.-130G>A (TGFB1) NP_000651.3:n.-130G>A
XM_011527242.2:c.-130G>A (TGFB1) XP_011525544.1:n.-130G>A
NM_000660.7:c.-130G>A (TGFB1) MANE Select NP_000651.3:n.-130G>A
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