Canonical Allele Identifier: CA3151746
Gene: TRAPPC11 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.183679452C>G
GRCh37 chr4:g.184600605C>G
Revel Score:
ENST00000334690 (MANE Select) 0.308
ENST00000357207 0.308
ENST00000360109 0.308
gnomAD v2:
4:184600605 C / G
gnomAD v3:
4:183679452 C / G
gnomAD v4:
chr4-183679452-C-G
Joint Max Group AF 0.0009908 (NFE)
Genomes Max Group AF 0.00086581 (AMR)
Exomes Max Group AF 0.00100374 (NFE)
ClinVar RCV:
RCV000538180
RCV001084206
ClinVar Variation:
448702
dbSNP:
148833310
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.183679452C>G , CM000666.2:g.183679452C>G GRCh38
NC_000004.11:g.184600605C>G , CM000666.1:g.184600605C>G GRCh37
NC_000004.10:g.184837599C>G NCBI36
NG_033102.1:g.25186C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334690.11:c.931C>G MANE Select ENSP00000335371.6:p.Leu311Val
ENST00000334690.10:c.931C>G ENSP00000335371.6:p.Leu311Val
ENST00000357207.8:c.931C>G ENSP00000349738.4:p.Leu311Val
ENST00000505676.5:c.163-756C>G ENSP00000422915.1:n.163-756C>G
NM_021942.5:c.931C>G NP_068761.4:p.Leu311Val
NM_199053.2:c.931C>G NP_951008.1:p.Leu311Val
XM_011532180.1:c.931C>G XP_011530482.1:p.Leu311Val
XM_017008537.2:c.931C>G XP_016864026.1:p.Leu311Val
XM_017008538.2:c.931C>G XP_016864027.1:p.Leu311Val
XM_024454179.1:c.931C>G XP_024309947.1:p.Leu311Val
XM_024454180.1:c.931C>G XP_024309948.1:p.Leu311Val
XM_024454181.1:c.-326C>G XP_024309949.1:n.-326C>G
XR_001741315.2:n.1123C>G
NM_021942.6:c.931C>G MANE Select NP_068761.4:p.Leu311Val
NM_199053.3:c.931C>G NP_951008.1:p.Leu311Val
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