Canonical Allele Identifier: CA507690195
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.41858794C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41352889C>T , CM000681.2:g.41352889C>T GRCh38
NC_000019.9:g.41858794C>T , CM000681.1:g.41858794C>T GRCh37
NC_000019.8:g.46550634C>T NCBI36
NG_013091.1:g.16285G>A
NG_013364.1:g.6038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.156G>A (TGFB1) MANE Select ENSP00000221930.4:p.Gln52=
ENST00000600196.2:c.156G>A (TGFB1) ENSP00000504008.1:p.Gln52=
ENST00000677934.1:c.156G>A (TGFB1) ENSP00000504769.1:p.Gln52=
ENST00000221930.5:c.156G>A (TGFB1) ENSP00000221930.4:p.Gln52=
ENST00000539627.5:c.-30+1687C>T (TMEM91) ENSP00000441900.1:n.-30+1687C>T
ENST00000604424.1:n.350+1687C>T
NM_000660.5:c.156G>A (TGFB1) NP_000651.3:p.Gln52=
XM_011527242.1:c.156G>A (TGFB1) XP_011525544.1:p.Gln52=
NM_000660.6:c.156G>A (TGFB1) NP_000651.3:p.Gln52=
XM_011527242.2:c.156G>A (TGFB1) XP_011525544.1:p.Gln52=
NM_000660.7:c.156G>A (TGFB1) MANE Select NP_000651.3:p.Gln52=