Canonical Allele Identifier: CA405999284

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41847809A>C (hg19) ; chr19:g.41341904A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341904A>C , CM000681.2:g.41341904A>C	GRCh38
NC_000019.9:g.41847809A>C , CM000681.1:g.41847809A>C	GRCh37
NC_000019.8:g.46539649A>C	NCBI36
NG_013364.1:g.17023T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.839T>G MANE Select	ENSP00000221930.4:p.Leu280Arg
ENST00000600196.2:c.712+266T>G	ENSP00000504008.1:n.712+266T>G
ENST00000677934.1:c.634+2843T>G	ENSP00000504769.1:n.634+2843T>G
ENST00000221930.5:c.839T>G	ENSP00000221930.4:p.Leu280Arg
ENST00000598758.5:c.127T>G
ENST00000600196.1:n.172+266T>G
NM_000660.5:c.839T>G	NP_000651.3:p.Leu280Arg
XM_011527242.1:c.842T>G	XP_011525544.1:p.Leu281Arg
NM_000660.6:c.839T>G	NP_000651.3:p.Leu280Arg
XM_011527242.2:c.842T>G	XP_011525544.1:p.Leu281Arg
NM_000660.7:c.839T>G MANE Select	NP_000651.3:p.Leu280Arg