Canonical Allele Identifier: CA144539
Gene: TRAPPC11 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.183701783G>A
GRCh37 chr4:g.184622936G>A
Revel Score:
ENST00000334690 (MANE Select) 0.691
ENST00000357207 0.691
ENST00000512476 0.691
gnomAD v2:
4:184622936 G / A
gnomAD v3:
4:183701783 G / A
gnomAD v4:
chr4-183701783-G-A
Joint Max Group AF 0.00017108 (EAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00019309 (EAS)
ClinVar RCV:
RCV000054408
ClinVar Variation:
60510
dbSNP:
397509417
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.183701783G>A , CM000666.2:g.183701783G>A GRCh38
NC_000004.11:g.184622936G>A , CM000666.1:g.184622936G>A GRCh37
NC_000004.10:g.184859930G>A NCBI36
NG_033102.1:g.47517G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334690.11:c.2938G>A MANE Select ENSP00000335371.6:p.Gly980Arg
ENST00000334690.10:c.2938G>A ENSP00000335371.6:p.Gly980Arg
ENST00000357207.8:c.2938G>A ENSP00000349738.4:p.Gly980Arg
ENST00000505676.5:c.*1052G>A ENSP00000422915.1:n.*1052G>A
ENST00000506426.1:n.124G>A
ENST00000511955.5:n.931G>A
ENST00000512476.1:c.1756G>A ENSP00000421004.1:p.Gly586Arg
NM_021942.5:c.2938G>A NP_068761.4:p.Gly980Arg
NM_199053.2:c.2938G>A NP_951008.1:p.Gly980Arg
XM_011532180.1:c.2938G>A XP_011530482.1:p.Gly980Arg
XM_017008537.2:c.2938G>A XP_016864026.1:p.Gly980Arg
XM_024454179.1:c.2938G>A XP_024309947.1:p.Gly980Arg
XM_024454180.1:c.2938G>A XP_024309948.1:p.Gly980Arg
XM_024454181.1:c.1588G>A XP_024309949.1:p.Gly530Arg
XR_001741315.2:n.3130G>A
NM_021942.6:c.2938G>A MANE Select NP_068761.4:p.Gly980Arg
NM_199053.3:c.2938G>A NP_951008.1:p.Gly980Arg
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