Canonical Allele Identifier: CA2585297511
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

gnomAD v4: 19-41353206-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353206G>A , CM000681.2:g.41353206G>A GRCh38
NC_000019.9:g.41859111G>A , CM000681.1:g.41859111G>A GRCh37
NC_000019.8:g.46550951G>A NCBI36
NG_013091.1:g.15968C>T
NG_013364.1:g.5721C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.-162C>T (TGFB1) MANE Select ENSP00000221930.4:n.-162C>T
ENST00000221930.5:c.-162C>T (TGFB1) ENSP00000221930.4:n.-162C>T
ENST00000539627.5:c.-30+2004G>A (TMEM91) ENSP00000441900.1:n.-30+2004G>A
ENST00000604424.1:n.350+2004G>A
NM_000660.5:c.-162C>T (TGFB1) NP_000651.3:n.-162C>T
XM_011527242.1:c.-162C>T (TGFB1) XP_011525544.1:n.-162C>T
NM_000660.6:c.-162C>T (TGFB1) NP_000651.3:n.-162C>T
XM_011527242.2:c.-162C>T (TGFB1) XP_011525544.1:n.-162C>T
NM_000660.7:c.-162C>T (TGFB1) MANE Select NP_000651.3:n.-162C>T
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