Canonical Allele Identifier: CA3152163

Gene: TRAPPC11

Linked Data

• ClinVar Variation Id: 261446
• ClinVar RCV Id: RCV000247514 ; RCV000829969 ; RCV001510411
• dbSNP Id: rs4862234
• ExAC: 4:184614874 C / T
• gnomAD v2: 4-184614874-C-T
• gnomAD v3: 4-183693721-C-T
• gnomAD v4: 4-183693721-C-T
• MyVariant Identifiers: chr4:g.184614874C>T (hg19) ; chr4:g.183693721C>T (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183693721C>T , CM000666.2:g.183693721C>T	GRCh38
NC_000004.11:g.184614874C>T , CM000666.1:g.184614874C>T	GRCh37
NC_000004.10:g.184851868C>T	NCBI36
NG_033102.1:g.39455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334690.11:c.2370C>T MANE Select	ENSP00000335371.6:p.Thr790=
ENST00000334690.10:c.2370C>T	ENSP00000335371.6:p.Thr790=
ENST00000357207.8:c.2370C>T	ENSP00000349738.4:p.Thr790=
ENST00000505676.5:c.*484C>T	ENSP00000422915.1:n.*484C>T
ENST00000512476.1:c.1188C>T	ENSP00000421004.1:p.Thr396=
NM_021942.5:c.2370C>T	NP_068761.4:p.Thr790=
NM_199053.2:c.2370C>T	NP_951008.1:p.Thr790=
XM_011532180.1:c.2370C>T	XP_011530482.1:p.Thr790=
XM_017008537.2:c.2370C>T	XP_016864026.1:p.Thr790=
XM_017008538.2:c.2370C>T	XP_016864027.1:p.Thr790=
XM_024454179.1:c.2370C>T	XP_024309947.1:p.Thr790=
XM_024454180.1:c.2370C>T	XP_024309948.1:p.Thr790=
XM_024454181.1:c.1020C>T	XP_024309949.1:p.Thr340=
XR_001741315.2:n.2562C>T
NM_021942.6:c.2370C>T MANE Select	NP_068761.4:p.Thr790=
NM_199053.3:c.2370C>T	NP_951008.1:p.Thr790=