Canonical Allele Identifier: CA406005792
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

ClinVar Variation Id: 1996313
ClinVar RCV Id: RCV002801964

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41352866G>C , CM000681.2:g.41352866G>C GRCh38
NC_000019.9:g.41858771G>C , CM000681.1:g.41858771G>C GRCh37
NC_000019.8:g.46550611G>C NCBI36
NG_013091.1:g.16308C>G
NG_013364.1:g.6061C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.179C>G (TGFB1) MANE Select ENSP00000221930.4:p.Ala60Gly
ENST00000600196.2:c.179C>G (TGFB1) ENSP00000504008.1:p.Ala60Gly
ENST00000677934.1:c.179C>G (TGFB1) ENSP00000504769.1:p.Ala60Gly
ENST00000221930.5:c.179C>G (TGFB1) ENSP00000221930.4:p.Ala60Gly
ENST00000539627.5:c.-30+1664G>C (TMEM91) ENSP00000441900.1:n.-30+1664G>C
ENST00000604424.1:n.350+1664G>C
NM_000660.5:c.179C>G (TGFB1) NP_000651.3:p.Ala60Gly
XM_011527242.1:c.179C>G (TGFB1) XP_011525544.1:p.Ala60Gly
NM_000660.6:c.179C>G (TGFB1) NP_000651.3:p.Ala60Gly
XM_011527242.2:c.179C>G (TGFB1) XP_011525544.1:p.Ala60Gly
NM_000660.7:c.179C>G (TGFB1) MANE Select NP_000651.3:p.Ala60Gly