Canonical Allele Identifier: CA882310624

Gene: TGFB1

Linked Data

• dbSNP Id: rs1190128998
• MyVariant Identifiers: chr19:g.41838136del (hg19) ; chr19:g.41332231del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332232del , CM000681.2:g.41332232del	GRCh38
NC_000019.9:g.41838137del , CM000681.1:g.41838137del	GRCh37
NC_000019.8:g.46529977del	NCBI36
NG_013364.1:g.26696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.911del MANE Select	ENSP00000221930.4:p.Lys304ArgfsTer?
ENST00000600196.2:c.763del	ENSP00000504008.1:p.Arg255GlyfsTer?
ENST00000677934.1:c.685del	ENSP00000504769.1:p.Arg229GlyfsTer?
ENST00000221930.5:c.911del	ENSP00000221930.4:p.Lys304ArgfsTer?
ENST00000598758.5:c.199del
ENST00000600196.1:n.223del
NM_000660.5:c.911del	NP_000651.3:p.Lys304ArgfsTer?
XM_011527242.1:c.914del	XP_011525544.1:p.Lys305ArgfsTer?
NM_000660.6:c.911del	NP_000651.3:p.Lys304ArgfsTer?
XM_011527242.2:c.914del	XP_011525544.1:p.Lys305ArgfsTer?
NM_000660.7:c.911del MANE Select	NP_000651.3:p.Lys304ArgfsTer?