Canonical Allele Identifier: CA9460160

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 1542492
• ClinVar RCV Id: RCV002167287
• dbSNP Id: rs771172130
• ExAC: 19:41858722 G / A
• gnomAD v2: 19-41858722-G-A
• gnomAD v3: 19-41352817-G-A
• gnomAD v4: 19-41352817-G-A
• MyVariant Identifiers: chr19:g.41858722G>A (hg19) ; chr19:g.41352817G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352817G>A , CM000681.2:g.41352817G>A	GRCh38
NC_000019.9:g.41858722G>A , CM000681.1:g.41858722G>A	GRCh37
NC_000019.8:g.46550562G>A	NCBI36
NG_013091.1:g.16357C>T
NG_013364.1:g.6110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.228C>T (TGFB1) MANE Select	ENSP00000221930.4:p.Ala76=
ENST00000600196.2:c.228C>T (TGFB1)	ENSP00000504008.1:p.Ala76=
ENST00000677934.1:c.228C>T (TGFB1)	ENSP00000504769.1:p.Ala76=
ENST00000221930.5:c.228C>T (TGFB1)	ENSP00000221930.4:p.Ala76=
ENST00000539627.5:c.-30+1615G>A (TMEM91)	ENSP00000441900.1:n.-30+1615G>A
ENST00000604424.1:n.350+1615G>A
NM_000660.5:c.228C>T (TGFB1)	NP_000651.3:p.Ala76=
XM_011527242.1:c.228C>T (TGFB1)	XP_011525544.1:p.Ala76=
NM_000660.6:c.228C>T (TGFB1)	NP_000651.3:p.Ala76=
XM_011527242.2:c.228C>T (TGFB1)	XP_011525544.1:p.Ala76=
NM_000660.7:c.228C>T (TGFB1) MANE Select	NP_000651.3:p.Ala76=