Canonical Allele Identifier: CA406004849

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 1990387
• ClinVar RCV Id: RCV002800857
• dbSNP Id: rs1354846501
• gnomAD v2: 19-41858607-C-T
• gnomAD v3: 19-41352702-C-T
• gnomAD v4: 19-41352702-C-T
• MyVariant Identifiers: chr19:g.41858607C>T (hg19) ; chr19:g.41352702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352702C>T , CM000681.2:g.41352702C>T	GRCh38
NC_000019.9:g.41858607C>T , CM000681.1:g.41858607C>T	GRCh37
NC_000019.8:g.46550447C>T	NCBI36
NG_013091.1:g.16472G>A
NG_013364.1:g.6225G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.343G>A (TGFB1) MANE Select	ENSP00000221930.4:p.Glu115Lys
ENST00000600196.2:c.343G>A (TGFB1)	ENSP00000504008.1:p.Glu115Lys
ENST00000677934.1:c.343G>A (TGFB1)	ENSP00000504769.1:p.Glu115Lys
ENST00000221930.5:c.343G>A (TGFB1)	ENSP00000221930.4:p.Glu115Lys
ENST00000539627.5:c.-30+1500C>T (TMEM91)	ENSP00000441900.1:n.-30+1500C>T
ENST00000604424.1:n.350+1500C>T
NM_000660.5:c.343G>A (TGFB1)	NP_000651.3:p.Glu115Lys
XM_011527242.1:c.343G>A (TGFB1)	XP_011525544.1:p.Glu115Lys
NM_000660.6:c.343G>A (TGFB1)	NP_000651.3:p.Glu115Lys
XM_011527242.2:c.343G>A (TGFB1)	XP_011525544.1:p.Glu115Lys
NM_000660.7:c.343G>A (TGFB1) MANE Select	NP_000651.3:p.Glu115Lys