Canonical Allele Identifier: CA7162853
Community Standard Title: NM_001079537.2(TRAPPC6B):c.149+2T>A
Gene: TRAPPC6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.39159481A>T , CM000676.2:g.39159481A>T GRCh38
NC_000014.8:g.39628685A>T , CM000676.1:g.39628685A>T GRCh37
NC_000014.7:g.38698436A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001079537.2:c.149+2T>A MANE Select NP_001073005.1:n.149+2T>A
ENST00000330149.10:c.149+2T>A MANE Select ENSP00000330289.5:n.149+2T>A
NM_001079537.1:c.149+2T>A NP_001073005.1:n.149+2T>A
NM_177452.3:c.149+2T>A NP_803235.1:n.149+2T>A
NM_177452.4:c.149+2T>A NP_803235.1:n.149+2T>A
ENST00000330149.9:c.149+2T>A ENSP00000330289.5:n.149+2T>A
ENST00000347691.9:c.149+2T>A ENSP00000335171.6:n.149+2T>A
ENST00000469361.5:n.588T>A
ENST00000554018.1:c.146+2T>A ENSP00000450670.1:n.146+2T>A
ENST00000555269.5:c.151T>A ENSP00000452236.1:p.Ter51Arg
ENST00000556765.1:c.151T>A ENSP00000451711.1:p.Ter51Arg
ENST00000557764.5:n.301-5187T>A
XM_011536409.1:c.35+2T>A XP_011534711.1:n.35+2T>A
XM_011536409.2:c.35+2T>A XP_011534711.1:n.35+2T>A
XM_017020964.2:c.149+2T>A XP_016876453.1:n.149+2T>A