Canonical Allele Identifier: CA405999394

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41847848C>T (hg19) ; chr19:g.41341943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341943C>T , CM000681.2:g.41341943C>T	GRCh38
NC_000019.9:g.41847848C>T , CM000681.1:g.41847848C>T	GRCh37
NC_000019.8:g.46539688C>T	NCBI36
NG_013364.1:g.16984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.800G>A MANE Select	ENSP00000221930.4:p.Arg267Lys
ENST00000600196.2:c.712+227G>A	ENSP00000504008.1:n.712+227G>A
ENST00000677934.1:c.634+2804G>A	ENSP00000504769.1:n.634+2804G>A
ENST00000221930.5:c.800G>A	ENSP00000221930.4:p.Arg267Lys
ENST00000598758.5:c.88G>A
ENST00000600196.1:n.172+227G>A
NM_000660.5:c.800G>A	NP_000651.3:p.Arg267Lys
XM_011527242.1:c.803G>A	XP_011525544.1:p.Arg268Lys
NM_000660.6:c.800G>A	NP_000651.3:p.Arg267Lys
XM_011527242.2:c.803G>A	XP_011525544.1:p.Arg268Lys
NM_000660.7:c.800G>A MANE Select	NP_000651.3:p.Arg267Lys