Canonical Allele Identifier: CA405999973

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41848117A>T (hg19) ; chr19:g.41342212A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342212A>T , CM000681.2:g.41342212A>T	GRCh38
NC_000019.9:g.41848117A>T , CM000681.1:g.41848117A>T	GRCh37
NC_000019.8:g.46539957A>T	NCBI36
NG_013364.1:g.16715T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.670T>A MANE Select	ENSP00000221930.4:p.Ser224Thr
ENST00000600196.2:c.670T>A	ENSP00000504008.1:p.Ser224Thr
ENST00000677934.1:c.634+2535T>A	ENSP00000504769.1:n.634+2535T>A
ENST00000221930.5:c.670T>A	ENSP00000221930.4:p.Ser224Thr
ENST00000597453.1:n.201T>A
ENST00000600196.1:n.130T>A
NM_000660.5:c.670T>A	NP_000651.3:p.Ser224Thr
XM_011527242.1:c.670T>A	XP_011525544.1:p.Ser224Thr
NM_000660.6:c.670T>A	NP_000651.3:p.Ser224Thr
XM_011527242.2:c.670T>A	XP_011525544.1:p.Ser224Thr
NM_000660.7:c.670T>A MANE Select	NP_000651.3:p.Ser224Thr