Canonical Allele Identifier: CA389553569
Community Standard Title: NM_001079537.2(TRAPPC6B):c.150-2A>G
Gene: TRAPPC6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.39158404T>C , CM000676.2:g.39158404T>C GRCh38
NC_000014.8:g.39627608T>C , CM000676.1:g.39627608T>C GRCh37
NC_000014.7:g.38697359T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001079537.2:c.150-2A>G MANE Select NP_001073005.1:n.150-2A>G
ENST00000330149.10:c.150-2A>G MANE Select ENSP00000330289.5:n.150-2A>G
NM_001079537.1:c.150-2A>G NP_001073005.1:n.150-2A>G
NM_177452.3:c.150-2A>G NP_803235.1:n.150-2A>G
NM_177452.4:c.150-2A>G NP_803235.1:n.150-2A>G
ENST00000330149.9:c.150-2A>G ENSP00000330289.5:n.150-2A>G
ENST00000347691.9:c.150-2A>G ENSP00000335171.6:n.150-2A>G
ENST00000469361.5:n.1665A>G
ENST00000554018.1:c.147-2A>G ENSP00000450670.1:n.147-2A>G
ENST00000555269.5:c.*30-2A>G ENSP00000452236.1:n.*30-2A>G
ENST00000556765.1:c.*30-2A>G ENSP00000451711.1:n.*30-2A>G
ENST00000557764.5:n.301-4110A>G
XM_011536409.1:c.36-2A>G XP_011534711.1:n.36-2A>G
XM_011536409.2:c.36-2A>G XP_011534711.1:n.36-2A>G
XM_017020964.2:c.150-2A>G XP_016876453.1:n.150-2A>G