Canonical Allele Identifier: CA389554108

Gene: TRAPPC6B

Genomic Alleles

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

Transcript Alleles

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