Canonical Allele Identifier: CA2735877123
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

dbSNP Id: rs36102838

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353158A>C , CM000681.2:g.41353158A>C GRCh38
NC_000019.9:g.41859063A>C , CM000681.1:g.41859063A>C GRCh37
NC_000019.8:g.46550903A>C NCBI36
NG_013091.1:g.16016T>G
NG_013364.1:g.5769T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.-114T>G (TGFB1) MANE Select ENSP00000221930.4:n.-114T>G
ENST00000221930.5:c.-114T>G (TGFB1) ENSP00000221930.4:n.-114T>G
ENST00000539627.5:c.-30+1956A>C (TMEM91) ENSP00000441900.1:n.-30+1956A>C
ENST00000604424.1:n.350+1956A>C
NM_000660.5:c.-114T>G (TGFB1) NP_000651.3:n.-114T>G
XM_011527242.1:c.-114T>G (TGFB1) XP_011525544.1:n.-114T>G
NM_000660.6:c.-114T>G (TGFB1) NP_000651.3:n.-114T>G
XM_011527242.2:c.-114T>G (TGFB1) XP_011525544.1:n.-114T>G
NM_000660.7:c.-114T>G (TGFB1) MANE Select NP_000651.3:n.-114T>G