Canonical Allele Identifier: CA405999313

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41847824C>A (hg19) ; chr19:g.41341919C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341919C>A , CM000681.2:g.41341919C>A	GRCh38
NC_000019.9:g.41847824C>A , CM000681.1:g.41847824C>A	GRCh37
NC_000019.8:g.46539664C>A	NCBI36
NG_013364.1:g.17008G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.824G>T MANE Select	ENSP00000221930.4:p.Arg275Leu
ENST00000600196.2:c.712+251G>T	ENSP00000504008.1:n.712+251G>T
ENST00000677934.1:c.634+2828G>T	ENSP00000504769.1:n.634+2828G>T
ENST00000221930.5:c.824G>T	ENSP00000221930.4:p.Arg275Leu
ENST00000598758.5:c.112G>T
ENST00000600196.1:n.172+251G>T
NM_000660.5:c.824G>T	NP_000651.3:p.Arg275Leu
XM_011527242.1:c.827G>T	XP_011525544.1:p.Arg276Leu
NM_000660.6:c.824G>T	NP_000651.3:p.Arg275Leu
XM_011527242.2:c.827G>T	XP_011525544.1:p.Arg276Leu
NM_000660.7:c.824G>T MANE Select	NP_000651.3:p.Arg275Leu