Canonical Allele Identifier: CA405999330

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41847832T>A (hg19) ; chr19:g.41341927T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341927T>A , CM000681.2:g.41341927T>A	GRCh38
NC_000019.9:g.41847832T>A , CM000681.1:g.41847832T>A	GRCh37
NC_000019.8:g.46539672T>A	NCBI36
NG_013364.1:g.17000A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.816A>T MANE Select	ENSP00000221930.4:p.Gln272His
ENST00000600196.2:c.712+243A>T	ENSP00000504008.1:n.712+243A>T
ENST00000677934.1:c.634+2820A>T	ENSP00000504769.1:n.634+2820A>T
ENST00000221930.5:c.816A>T	ENSP00000221930.4:p.Gln272His
ENST00000598758.5:c.104A>T
ENST00000600196.1:n.172+243A>T
NM_000660.5:c.816A>T	NP_000651.3:p.Gln272His
XM_011527242.1:c.819A>T	XP_011525544.1:p.Gln273His
NM_000660.6:c.816A>T	NP_000651.3:p.Gln272His
XM_011527242.2:c.819A>T	XP_011525544.1:p.Gln273His
NM_000660.7:c.816A>T MANE Select	NP_000651.3:p.Gln272His