Canonical Allele Identifier: CA3151816
Gene: TRAPPC11 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.183682810C>T
GRCh37 chr4:g.184603963C>T
gnomAD v2:
4:184603963 C / T
gnomAD v3:
4:183682810 C / T
gnomAD v4:
chr4-183682810-C-T
Joint Max Group AF 0.00006734 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00006883 (NFE)
ClinVar RCV:
RCV000554957
RCV000825637
ClinVar Variation:
474342
dbSNP:
140403642
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.183682810C>T , CM000666.2:g.183682810C>T GRCh38
NC_000004.11:g.184603963C>T , CM000666.1:g.184603963C>T GRCh37
NC_000004.10:g.184840957C>T NCBI36
NG_033102.1:g.28544C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334690.11:c.1192C>T MANE Select ENSP00000335371.6:p.Arg398Ter
ENST00000334690.10:c.1192C>T ENSP00000335371.6:p.Arg398Ter
ENST00000357207.8:c.1192C>T ENSP00000349738.4:p.Arg398Ter
ENST00000505676.5:c.301C>T ENSP00000422915.1:p.Arg101Ter
NM_021942.5:c.1192C>T NP_068761.4:p.Arg398Ter
NM_199053.2:c.1192C>T NP_951008.1:p.Arg398Ter
XM_011532180.1:c.1192C>T XP_011530482.1:p.Arg398Ter
XM_017008537.2:c.1192C>T XP_016864026.1:p.Arg398Ter
XM_017008538.2:c.1192C>T XP_016864027.1:p.Arg398Ter
XM_024454179.1:c.1192C>T XP_024309947.1:p.Arg398Ter
XM_024454180.1:c.1192C>T XP_024309948.1:p.Arg398Ter
XM_024454181.1:c.-143-1165C>T XP_024309949.1:n.-143-1165C>T
XR_001741315.2:n.1384C>T
NM_021942.6:c.1192C>T MANE Select NP_068761.4:p.Arg398Ter
NM_199053.3:c.1192C>T NP_951008.1:p.Arg398Ter
Search 100 bp 5'
Search 100 bp 3'