Canonical Allele Identifier: CA3152264
Gene: TRAPPC11 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.183697515A>G
GRCh37 chr4:g.184618668A>G
Revel Score:
ENST00000334690 (MANE Select) 0.195
ENST00000357207 0.195
ENST00000360109 0.195
ENST00000512476 0.195
gnomAD v2:
4:184618668 A / G
gnomAD v3:
4:183697515 A / G
gnomAD v4:
chr4-183697515-A-G
Joint Max Group AF 0.00088089 (SAS)
Genomes Max Group AF 0.00040793 (SAS)
Exomes Max Group AF 0.00087659 (SAS)
ClinVar RCV:
RCV000651603
ClinVar Variation:
541342
dbSNP:
772814181
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.183697515A>G , CM000666.2:g.183697515A>G GRCh38
NC_000004.11:g.184618668A>G , CM000666.1:g.184618668A>G GRCh37
NC_000004.10:g.184855662A>G NCBI36
NG_033102.1:g.43249A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334690.11:c.2641A>G MANE Select ENSP00000335371.6:p.Thr881Ala
ENST00000334690.10:c.2641A>G ENSP00000335371.6:p.Thr881Ala
ENST00000357207.8:c.2641A>G ENSP00000349738.4:p.Thr881Ala
ENST00000505676.5:c.*755A>G ENSP00000422915.1:n.*755A>G
ENST00000512476.1:c.1459A>G ENSP00000421004.1:p.Thr487Ala
NM_021942.5:c.2641A>G NP_068761.4:p.Thr881Ala
NM_199053.2:c.2641A>G NP_951008.1:p.Thr881Ala
XM_011532180.1:c.2641A>G XP_011530482.1:p.Thr881Ala
XM_017008537.2:c.2641A>G XP_016864026.1:p.Thr881Ala
XM_017008538.2:c.2641A>G XP_016864027.1:p.Thr881Ala
XM_024454179.1:c.2641A>G XP_024309947.1:p.Thr881Ala
XM_024454180.1:c.2641A>G XP_024309948.1:p.Thr881Ala
XM_024454181.1:c.1291A>G XP_024309949.1:p.Thr431Ala
XR_001741315.2:n.2833A>G
NM_021942.6:c.2641A>G MANE Select NP_068761.4:p.Thr881Ala
NM_199053.3:c.2641A>G NP_951008.1:p.Thr881Ala
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