Canonical Allele Identifier: CA405999728
Gene: TGFB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342030C>A , CM000681.2:g.41342030C>A GRCh38
NC_000019.9:g.41847935C>A , CM000681.1:g.41847935C>A GRCh37
NC_000019.8:g.46539775C>A NCBI36
NG_013364.1:g.16897G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.713G>T MANE Select ENSP00000221930.4:p.Gly238Val
ENST00000600196.2:c.712+140G>T ENSP00000504008.1:n.712+140G>T
ENST00000677934.1:c.634+2717G>T ENSP00000504769.1:n.634+2717G>T
ENST00000221930.5:c.713G>T ENSP00000221930.4:p.Gly238Val
ENST00000597453.1:n.383G>T
ENST00000598758.5:c.1G>T
ENST00000600196.1:n.172+140G>T
NM_000660.5:c.713G>T NP_000651.3:p.Gly238Val
XM_011527242.1:c.716G>T XP_011525544.1:p.Gly239Val
NM_000660.6:c.713G>T NP_000651.3:p.Gly238Val
XM_011527242.2:c.716G>T XP_011525544.1:p.Gly239Val
NM_000660.7:c.713G>T MANE Select NP_000651.3:p.Gly238Val