Canonical Allele Identifier: CA406000018

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41848128C>G (hg19) ; chr19:g.41342223C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342223C>G , CM000681.2:g.41342223C>G	GRCh38
NC_000019.9:g.41848128C>G , CM000681.1:g.41848128C>G	GRCh37
NC_000019.8:g.46539968C>G	NCBI36
NG_013364.1:g.16704G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.659G>C MANE Select	ENSP00000221930.4:p.Ser220Thr
ENST00000600196.2:c.659G>C	ENSP00000504008.1:p.Ser220Thr
ENST00000677934.1:c.634+2524G>C	ENSP00000504769.1:n.634+2524G>C
ENST00000221930.5:c.659G>C	ENSP00000221930.4:p.Ser220Thr
ENST00000597453.1:n.190G>C
ENST00000600196.1:n.119G>C
NM_000660.5:c.659G>C	NP_000651.3:p.Ser220Thr
XM_011527242.1:c.659G>C	XP_011525544.1:p.Ser220Thr
NM_000660.6:c.659G>C	NP_000651.3:p.Ser220Thr
XM_011527242.2:c.659G>C	XP_011525544.1:p.Ser220Thr
NM_000660.7:c.659G>C MANE Select	NP_000651.3:p.Ser220Thr