Canonical Allele Identifier: CA406005649
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41352849C>G , CM000681.2:g.41352849C>G GRCh38
NC_000019.9:g.41858754C>G , CM000681.1:g.41858754C>G GRCh37
NC_000019.8:g.46550594C>G NCBI36
NG_013091.1:g.16325G>C
NG_013364.1:g.6078G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.196G>C (TGFB1) MANE Select ENSP00000221930.4:p.Gly66Arg
ENST00000600196.2:c.196G>C (TGFB1) ENSP00000504008.1:p.Gly66Arg
ENST00000677934.1:c.196G>C (TGFB1) ENSP00000504769.1:p.Gly66Arg
ENST00000221930.5:c.196G>C (TGFB1) ENSP00000221930.4:p.Gly66Arg
ENST00000539627.5:c.-30+1647C>G (TMEM91) ENSP00000441900.1:n.-30+1647C>G
ENST00000604424.1:n.350+1647C>G
NM_000660.5:c.196G>C (TGFB1) NP_000651.3:p.Gly66Arg
XM_011527242.1:c.196G>C (TGFB1) XP_011525544.1:p.Gly66Arg
NM_000660.6:c.196G>C (TGFB1) NP_000651.3:p.Gly66Arg
XM_011527242.2:c.196G>C (TGFB1) XP_011525544.1:p.Gly66Arg
NM_000660.7:c.196G>C (TGFB1) MANE Select NP_000651.3:p.Gly66Arg