Canonical Allele Identifier: CA9460149

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 1617605
• ClinVar RCV Id: RCV002071745 ; RCV003933517
• dbSNP Id: rs147873920
• ExAC: 19:41858659 G / A
• gnomAD v2: 19-41858659-G-A
• gnomAD v3: 19-41352754-G-A
• gnomAD v4: 19-41352754-G-A
• MyVariant Identifiers: chr19:g.41858659G>A (hg19) ; chr19:g.41352754G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352754G>A , CM000681.2:g.41352754G>A	GRCh38
NC_000019.9:g.41858659G>A , CM000681.1:g.41858659G>A	GRCh37
NC_000019.8:g.46550499G>A	NCBI36
NG_013091.1:g.16420C>T
NG_013364.1:g.6173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.291C>T (TGFB1) MANE Select	ENSP00000221930.4:p.Pro97=
ENST00000600196.2:c.291C>T (TGFB1)	ENSP00000504008.1:p.Pro97=
ENST00000677934.1:c.291C>T (TGFB1)	ENSP00000504769.1:p.Pro97=
ENST00000221930.5:c.291C>T (TGFB1)	ENSP00000221930.4:p.Pro97=
ENST00000539627.5:c.-30+1552G>A (TMEM91)	ENSP00000441900.1:n.-30+1552G>A
ENST00000604424.1:n.350+1552G>A
NM_000660.5:c.291C>T (TGFB1)	NP_000651.3:p.Pro97=
XM_011527242.1:c.291C>T (TGFB1)	XP_011525544.1:p.Pro97=
NM_000660.6:c.291C>T (TGFB1)	NP_000651.3:p.Pro97=
XM_011527242.2:c.291C>T (TGFB1)	XP_011525544.1:p.Pro97=
NM_000660.7:c.291C>T (TGFB1) MANE Select	NP_000651.3:p.Pro97=