Canonical Allele Identifier: CA995964129

Gene: TGFB1 TMEM91

Linked Data

• dbSNP Id: rs2038235970
• gnomAD v3: 19-41353131-C-G
• gnomAD v4: 19-41353131-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353131C>G , CM000681.2:g.41353131C>G	GRCh38
NC_000019.9:g.41859036C>G , CM000681.1:g.41859036C>G	GRCh37
NC_000019.8:g.46550876C>G	NCBI36
NG_013091.1:g.16043G>C
NG_013364.1:g.5796G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.-87G>C (TGFB1) MANE Select	ENSP00000221930.4:n.-87G>C
ENST00000221930.5:c.-87G>C (TGFB1)	ENSP00000221930.4:n.-87G>C
ENST00000539627.5:c.-30+1929C>G (TMEM91)	ENSP00000441900.1:n.-30+1929C>G
ENST00000604424.1:n.350+1929C>G
NM_000660.5:c.-87G>C (TGFB1)	NP_000651.3:n.-87G>C
XM_011527242.1:c.-87G>C (TGFB1)	XP_011525544.1:n.-87G>C
NM_000660.6:c.-87G>C (TGFB1)	NP_000651.3:n.-87G>C
XM_011527242.2:c.-87G>C (TGFB1)	XP_011525544.1:n.-87G>C
NM_000660.7:c.-87G>C (TGFB1) MANE Select	NP_000651.3:n.-87G>C