Canonical Allele Identifier: CA406005939

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 2753889
• ClinVar RCV Id: RCV003569053
• MyVariant Identifiers: chr19:g.41858799C>G (hg19) ; chr19:g.41352894C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352894C>G , CM000681.2:g.41352894C>G	GRCh38
NC_000019.9:g.41858799C>G , CM000681.1:g.41858799C>G	GRCh37
NC_000019.8:g.46550639C>G	NCBI36
NG_013091.1:g.16280G>C
NG_013364.1:g.6033G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.151G>C (TGFB1) MANE Select	ENSP00000221930.4:p.Gly51Arg
ENST00000600196.2:c.151G>C (TGFB1)	ENSP00000504008.1:p.Gly51Arg
ENST00000677934.1:c.151G>C (TGFB1)	ENSP00000504769.1:p.Gly51Arg
ENST00000221930.5:c.151G>C (TGFB1)	ENSP00000221930.4:p.Gly51Arg
ENST00000539627.5:c.-30+1692C>G (TMEM91)	ENSP00000441900.1:n.-30+1692C>G
ENST00000604424.1:n.350+1692C>G
NM_000660.5:c.151G>C (TGFB1)	NP_000651.3:p.Gly51Arg
XM_011527242.1:c.151G>C (TGFB1)	XP_011525544.1:p.Gly51Arg
NM_000660.6:c.151G>C (TGFB1)	NP_000651.3:p.Gly51Arg
XM_011527242.2:c.151G>C (TGFB1)	XP_011525544.1:p.Gly51Arg
NM_000660.7:c.151G>C (TGFB1) MANE Select	NP_000651.3:p.Gly51Arg