Canonical Allele Identifier: CA122449

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 12534
• ClinVar RCV Id: RCV000013361 ; RCV000013360 ; RCV000242872 ; RCV001516678 ; RCV001838526 ; RCV001838525 ; RCV002496341
• dbSNP Id: rs1800470
• ExAC: 19:41858921 G / A
• gnomAD v2: 19-41858921-G-A
• gnomAD v3: 19-41353016-G-A
• gnomAD v4: 19-41353016-G-A
• MyVariant Identifiers: chr19:g.41858921G>A (hg19) ; chr19:g.41353016G>A (hg38)
• PubMed: PMID:16207846 ; PMID:17293864 ; PMID:18292811 ; PMID:18424453 ; PMID:20301335

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353016G>A , CM000681.2:g.41353016G>A	GRCh38
NC_000019.9:g.41858921G>A , CM000681.1:g.41858921G>A	GRCh37
NC_000019.8:g.46550761G>A	NCBI36
NG_013091.1:g.16158C>T
NG_013364.1:g.5911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.29C>T (TGFB1) MANE Select	ENSP00000221930.4:p.Pro10Leu
ENST00000600196.2:c.29C>T (TGFB1)	ENSP00000504008.1:p.Pro10Leu
ENST00000677934.1:c.29C>T (TGFB1)	ENSP00000504769.1:p.Pro10Leu
ENST00000221930.5:c.29C>T (TGFB1)	ENSP00000221930.4:p.Pro10Leu
ENST00000539627.5:c.-30+1814G>A (TMEM91)	ENSP00000441900.1:n.-30+1814G>A
ENST00000604424.1:n.350+1814G>A
NM_000660.5:c.29C>T (TGFB1)	NP_000651.3:p.Pro10Leu
XM_011527242.1:c.29C>T (TGFB1)	XP_011525544.1:p.Pro10Leu
NM_000660.6:c.29C>T (TGFB1)	NP_000651.3:p.Pro10Leu
XM_011527242.2:c.29C>T (TGFB1)	XP_011525544.1:p.Pro10Leu
NM_000660.7:c.29C>T (TGFB1) MANE Select	NP_000651.3:p.Pro10Leu