Canonical Allele Identifier: CA229665763
Community Standard Title: NM_016146.6(TRAPPC4):c.350+129T>C
Gene: TRAPPC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119019446T>C , CM000673.2:g.119019446T>C GRCh38
NC_000011.9:g.118890156T>C , CM000673.1:g.118890156T>C GRCh37
NC_000011.8:g.118395366T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016146.6:c.350+129T>C MANE Select NP_057230.1:n.350+129T>C
ENST00000533632.6:c.350+129T>C MANE Select ENSP00000436005.1:n.350+129T>C
NM_001318486.1:c.136+129T>C NP_001305415.1:n.136+129T>C
NM_001318486.2:c.136+129T>C NP_001305415.1:n.136+129T>C
NM_001318488.1:c.350+129T>C NP_001305417.1:n.350+129T>C
NM_001318488.2:c.350+129T>C NP_001305417.1:n.350+129T>C
NM_001318489.1:c.243+236T>C NP_001305418.1:n.243+236T>C
NM_001318489.2:c.243+236T>C NP_001305418.1:n.243+236T>C
NM_001318490.1:c.221+258T>C NP_001305419.1:n.221+258T>C
NM_001318490.2:c.221+258T>C NP_001305419.1:n.221+258T>C
NM_001318492.1:c.35+22T>C NP_001305421.1:n.35+22T>C
NM_001318492.2:c.35+22T>C NP_001305421.1:n.35+22T>C
NM_001318494.1:c.175+476T>C NP_001305423.1:n.175+476T>C
NM_001318494.2:c.175+476T>C NP_001305423.1:n.175+476T>C
NM_016146.4:c.350+129T>C NP_057230.1:n.350+129T>C
NM_016146.5:c.350+129T>C NP_057230.1:n.350+129T>C
ENST00000359005.8:c.350+129T>C ENSP00000351896.4:n.350+129T>C
ENST00000434101.6:c.243+236T>C ENSP00000405033.2:n.243+236T>C
ENST00000447216.2:n.380+129T>C
ENST00000525079.5:c.*103+22T>C ENSP00000433658.1:n.*103+22T>C
ENST00000525303.5:c.175+476T>C ENSP00000435339.1:n.175+476T>C
ENST00000527680.1:n.512T>C
ENST00000528230.5:c.221+258T>C ENSP00000436827.1:n.221+258T>C
ENST00000531290.5:n.552+129T>C
ENST00000533012.1:c.350+129T>C ENSP00000436281.1:n.350+129T>C
ENST00000533058.5:c.350+129T>C ENSP00000432920.1:n.350+129T>C
ENST00000533149.1:n.55T>C
ENST00000533632.5:c.350+129T>C ENSP00000436005.1:n.350+129T>C
XM_011542867.1:c.35+22T>C XP_011541169.1:n.35+22T>C
XR_947830.1:n.383+129T>C