Canonical Allele Identifier: CA405999370

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41847843G>T (hg19) ; chr19:g.41341938G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341938G>T , CM000681.2:g.41341938G>T	GRCh38
NC_000019.9:g.41847843G>T , CM000681.1:g.41847843G>T	GRCh37
NC_000019.8:g.46539683G>T	NCBI36
NG_013364.1:g.16989C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.805C>A MANE Select	ENSP00000221930.4:p.Gln269Lys
ENST00000600196.2:c.712+232C>A	ENSP00000504008.1:n.712+232C>A
ENST00000677934.1:c.634+2809C>A	ENSP00000504769.1:n.634+2809C>A
ENST00000221930.5:c.805C>A	ENSP00000221930.4:p.Gln269Lys
ENST00000598758.5:c.93C>A
ENST00000600196.1:n.172+232C>A
NM_000660.5:c.805C>A	NP_000651.3:p.Gln269Lys
XM_011527242.1:c.808C>A	XP_011525544.1:p.Gln270Lys
NM_000660.6:c.805C>A	NP_000651.3:p.Gln269Lys
XM_011527242.2:c.808C>A	XP_011525544.1:p.Gln270Lys
NM_000660.7:c.805C>A MANE Select	NP_000651.3:p.Gln269Lys