Canonical Allele Identifier: CA406005423
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.41858725C>G (hg19) chr19:g.41352820C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41352820C>G , CM000681.2:g.41352820C>G GRCh38
NC_000019.9:g.41858725C>G , CM000681.1:g.41858725C>G GRCh37
NC_000019.8:g.46550565C>G NCBI36
NG_013091.1:g.16354G>C
NG_013364.1:g.6107G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.225G>C (TGFB1) MANE Select ENSP00000221930.4:p.Glu75Asp
ENST00000600196.2:c.225G>C (TGFB1) ENSP00000504008.1:p.Glu75Asp
ENST00000677934.1:c.225G>C (TGFB1) ENSP00000504769.1:p.Glu75Asp
ENST00000221930.5:c.225G>C (TGFB1) ENSP00000221930.4:p.Glu75Asp
ENST00000539627.5:c.-30+1618C>G (TMEM91) ENSP00000441900.1:n.-30+1618C>G
ENST00000604424.1:n.350+1618C>G
NM_000660.5:c.225G>C (TGFB1) NP_000651.3:p.Glu75Asp
XM_011527242.1:c.225G>C (TGFB1) XP_011525544.1:p.Glu75Asp
NM_000660.6:c.225G>C (TGFB1) NP_000651.3:p.Glu75Asp
XM_011527242.2:c.225G>C (TGFB1) XP_011525544.1:p.Glu75Asp
NM_000660.7:c.225G>C (TGFB1) MANE Select NP_000651.3:p.Glu75Asp
Search 100 bp 5'
Search 100 bp 3'