Canonical Allele Identifier: CA406004823

Gene: TGFB1 TMEM91

Linked Data

• dbSNP Id: rs1324057519
• gnomAD v2: 19-41858600-T-C
• MyVariant Identifiers: chr19:g.41858600T>C (hg19) ; chr19:g.41352695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352695T>C , CM000681.2:g.41352695T>C	GRCh38
NC_000019.9:g.41858600T>C , CM000681.1:g.41858600T>C	GRCh37
NC_000019.8:g.46550440T>C	NCBI36
NG_013091.1:g.16479A>G
NG_013364.1:g.6232A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.350A>G (TGFB1) MANE Select	ENSP00000221930.4:p.His117Arg
ENST00000600196.2:c.350A>G (TGFB1)	ENSP00000504008.1:p.His117Arg
ENST00000677934.1:c.350A>G (TGFB1)	ENSP00000504769.1:p.His117Arg
ENST00000221930.5:c.350A>G (TGFB1)	ENSP00000221930.4:p.His117Arg
ENST00000539627.5:c.-30+1493T>C (TMEM91)	ENSP00000441900.1:n.-30+1493T>C
ENST00000604424.1:n.350+1493T>C
NM_000660.5:c.350A>G (TGFB1)	NP_000651.3:p.His117Arg
XM_011527242.1:c.350A>G (TGFB1)	XP_011525544.1:p.His117Arg
NM_000660.6:c.350A>G (TGFB1)	NP_000651.3:p.His117Arg
XM_011527242.2:c.350A>G (TGFB1)	XP_011525544.1:p.His117Arg
NM_000660.7:c.350A>G (TGFB1) MANE Select	NP_000651.3:p.His117Arg