Canonical Allele Identifier: CA405999289

Gene: TGFB1

Linked Data

• COSMIC: COSM227640
• MyVariant Identifiers: chr19:g.41847812G>A (hg19) ; chr19:g.41341907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341907G>A , CM000681.2:g.41341907G>A	GRCh38
NC_000019.9:g.41847812G>A , CM000681.1:g.41847812G>A	GRCh37
NC_000019.8:g.46539652G>A	NCBI36
NG_013364.1:g.17020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.836C>T MANE Select	ENSP00000221930.4:p.Ala279Val
ENST00000600196.2:c.712+263C>T	ENSP00000504008.1:n.712+263C>T
ENST00000677934.1:c.634+2840C>T	ENSP00000504769.1:n.634+2840C>T
ENST00000221930.5:c.836C>T	ENSP00000221930.4:p.Ala279Val
ENST00000598758.5:c.124C>T
ENST00000600196.1:n.172+263C>T
NM_000660.5:c.836C>T	NP_000651.3:p.Ala279Val
XM_011527242.1:c.839C>T	XP_011525544.1:p.Ala280Val
NM_000660.6:c.836C>T	NP_000651.3:p.Ala279Val
XM_011527242.2:c.839C>T	XP_011525544.1:p.Ala280Val
NM_000660.7:c.836C>T MANE Select	NP_000651.3:p.Ala279Val