Canonical Allele Identifier: CA9460141

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 1981032
• ClinVar RCV Id: RCV002751200
• dbSNP Id: rs562072561
• ExAC: 19:41858612 A / G
• gnomAD v2: 19-41858612-A-G
• gnomAD v3: 19-41352707-A-G
• gnomAD v4: 19-41352707-A-G
• MyVariant Identifiers: chr19:g.41858612A>G (hg19) ; chr19:g.41352707A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352707A>G , CM000681.2:g.41352707A>G	GRCh38
NC_000019.9:g.41858612A>G , CM000681.1:g.41858612A>G	GRCh37
NC_000019.8:g.46550452A>G	NCBI36
NG_013091.1:g.16467T>C
NG_013364.1:g.6220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.338T>C (TGFB1) MANE Select	ENSP00000221930.4:p.Met113Thr
ENST00000600196.2:c.338T>C (TGFB1)	ENSP00000504008.1:p.Met113Thr
ENST00000677934.1:c.338T>C (TGFB1)	ENSP00000504769.1:p.Met113Thr
ENST00000221930.5:c.338T>C (TGFB1)	ENSP00000221930.4:p.Met113Thr
ENST00000539627.5:c.-30+1505A>G (TMEM91)	ENSP00000441900.1:n.-30+1505A>G
ENST00000604424.1:n.350+1505A>G
NM_000660.5:c.338T>C (TGFB1)	NP_000651.3:p.Met113Thr
XM_011527242.1:c.338T>C (TGFB1)	XP_011525544.1:p.Met113Thr
NM_000660.6:c.338T>C (TGFB1)	NP_000651.3:p.Met113Thr
XM_011527242.2:c.338T>C (TGFB1)	XP_011525544.1:p.Met113Thr
NM_000660.7:c.338T>C (TGFB1) MANE Select	NP_000651.3:p.Met113Thr