Canonical Allele Identifier: CA405999293

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41847813C>T (hg19) ; chr19:g.41341908C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341908C>T , CM000681.2:g.41341908C>T	GRCh38
NC_000019.9:g.41847813C>T , CM000681.1:g.41847813C>T	GRCh37
NC_000019.8:g.46539653C>T	NCBI36
NG_013364.1:g.17019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.835G>A MANE Select	ENSP00000221930.4:p.Ala279Thr
ENST00000600196.2:c.712+262G>A	ENSP00000504008.1:n.712+262G>A
ENST00000677934.1:c.634+2839G>A	ENSP00000504769.1:n.634+2839G>A
ENST00000221930.5:c.835G>A	ENSP00000221930.4:p.Ala279Thr
ENST00000598758.5:c.123G>A
ENST00000600196.1:n.172+262G>A
NM_000660.5:c.835G>A	NP_000651.3:p.Ala279Thr
XM_011527242.1:c.838G>A	XP_011525544.1:p.Ala280Thr
NM_000660.6:c.835G>A	NP_000651.3:p.Ala279Thr
XM_011527242.2:c.838G>A	XP_011525544.1:p.Ala280Thr
NM_000660.7:c.835G>A MANE Select	NP_000651.3:p.Ala279Thr