Canonical Allele Identifier: CA405999418

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41847854A>T (hg19) ; chr19:g.41341949A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341949A>T , CM000681.2:g.41341949A>T	GRCh38
NC_000019.9:g.41847854A>T , CM000681.1:g.41847854A>T	GRCh37
NC_000019.8:g.46539694A>T	NCBI36
NG_013364.1:g.16978T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.794T>A MANE Select	ENSP00000221930.4:p.Leu265Gln
ENST00000600196.2:c.712+221T>A	ENSP00000504008.1:n.712+221T>A
ENST00000677934.1:c.634+2798T>A	ENSP00000504769.1:n.634+2798T>A
ENST00000221930.5:c.794T>A	ENSP00000221930.4:p.Leu265Gln
ENST00000598758.5:c.82T>A
ENST00000600196.1:n.172+221T>A
NM_000660.5:c.794T>A	NP_000651.3:p.Leu265Gln
XM_011527242.1:c.797T>A	XP_011525544.1:p.Leu266Gln
NM_000660.6:c.794T>A	NP_000651.3:p.Leu265Gln
XM_011527242.2:c.797T>A	XP_011525544.1:p.Leu266Gln
NM_000660.7:c.794T>A MANE Select	NP_000651.3:p.Leu265Gln