Canonical Allele Identifier: CA16044220

Gene: TRAPPC11

Linked Data

• ClinVar Variation Id: 375391
• ClinVar RCV Id: RCV000416446 ; RCV003401410
• dbSNP Id: rs150331292
• gnomAD v2: 4-184585162-C-T
• gnomAD v4: 4-183664009-C-T
• MyVariant Identifiers: chr4:g.184585162C>T (hg19) ; chr4:g.183664009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183664009C>T , CM000666.2:g.183664009C>T	GRCh38
NC_000004.11:g.184585162C>T , CM000666.1:g.184585162C>T	GRCh37
NC_000004.10:g.184822156C>T	NCBI36
NG_033102.1:g.9743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334690.11:c.142C>T MANE Select	ENSP00000335371.6:p.Arg48Ter
ENST00000334690.10:c.142C>T	ENSP00000335371.6:p.Arg48Ter
ENST00000357207.8:c.142C>T	ENSP00000349738.4:p.Arg48Ter
ENST00000504526.1:n.288C>T
ENST00000505676.5:c.142C>T	ENSP00000422915.1:p.Arg48Ter
NM_021942.5:c.142C>T	NP_068761.4:p.Arg48Ter
NM_199053.2:c.142C>T	NP_951008.1:p.Arg48Ter
XM_011532180.1:c.142C>T	XP_011530482.1:p.Arg48Ter
XM_017008537.2:c.142C>T	XP_016864026.1:p.Arg48Ter
XM_017008538.2:c.142C>T	XP_016864027.1:p.Arg48Ter
XM_024454179.1:c.142C>T	XP_024309947.1:p.Arg48Ter
XM_024454180.1:c.142C>T	XP_024309948.1:p.Arg48Ter
XM_024454181.1:c.-1115C>T	XP_024309949.1:n.-1115C>T
XR_001741315.2:n.334C>T
NM_021942.6:c.142C>T MANE Select	NP_068761.4:p.Arg48Ter
NM_199053.3:c.142C>T	NP_951008.1:p.Arg48Ter