Canonical Allele Identifier: CA507554565

Gene: TGFB1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332245G>A , CM000681.2:g.41332245G>A	GRCh38
NC_000019.9:g.41838150G>A , CM000681.1:g.41838150G>A	GRCh37
NC_000019.8:g.46529990G>A	NCBI36
NG_013364.1:g.26682C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000660.7:c.897C>T MANE Select	NP_000651.3:p.Tyr299=
ENST00000221930.6:c.897C>T MANE Select	ENSP00000221930.4:p.Tyr299=
NM_000660.5:c.897C>T	NP_000651.3:p.Tyr299=
NM_000660.6:c.897C>T	NP_000651.3:p.Tyr299=
ENST00000221930.5:c.897C>T	ENSP00000221930.4:p.Tyr299=
ENST00000598758.5:c.185C>T
ENST00000600196.1:n.209C>T
ENST00000600196.2:c.749C>T	ENSP00000504008.1:p.Thr250Ile
ENST00000677934.1:c.671C>T	ENSP00000504769.1:p.Thr224Ile
XM_011527242.1:c.900C>T	XP_011525544.1:p.Tyr300=
XM_011527242.2:c.900C>T	XP_011525544.1:p.Tyr300=