Canonical Allele Identifier: CA4892793

Gene: TRAPPC9

Linked Data

• ClinVar Variation Id: 362064
• ClinVar RCV Id: RCV000368670 ; RCV000501719 ; RCV000709937 ; RCV001252377 ; RCV001815322 ; RCV002450933
• dbSNP Id: rs111768745
• ExAC: 8:140744352 C / T
• gnomAD v2: 8-140744352-C-T
• gnomAD v3: 8-139732109-C-T
• gnomAD v4: 8-139732109-C-T
• MyVariant Identifiers: chr8:g.140744352C>T (hg19) ; chr8:g.139732109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.139732109C>T , CM000670.2:g.139732109C>T	GRCh38
NC_000008.10:g.140744352C>T , CM000670.1:g.140744352C>T	GRCh37
NC_000008.9:g.140813534C>T	NCBI36
NG_016478.2:g.731471G>A
NG_016478.3:g.731471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438773.4:c.3149G>A MANE Select	ENSP00000405060.3:p.Arg1050Gln
ENST00000648948.2:c.3149G>A	ENSP00000498020.1:p.Arg1050Gln
ENST00000389328.8:c.3443G>A	ENSP00000373979.4:p.Arg1148Gln
ENST00000438773.2:c.3149G>A	ENSP00000405060.2:p.Arg1050Gln
ENST00000519482.1:n.236G>A
ENST00000520857.5:c.2679G>A
ENST00000521667.5:n.1554G>A
ENST00000521700.5:n.195G>A
ENST00000522504.5:n.302G>A
ENST00000524162.5:n.575G>A
NM_001160372.2:c.3149G>A	NP_001153844.1:p.Arg1050Gln
NM_031466.6:c.3443G>A	NP_113654.4:p.Arg1148Gln
XM_005251077.3:c.3149G>A	XP_005251134.1:p.Arg1050Gln
XM_011517326.1:c.3416G>A	XP_011515628.1:p.Arg1139Gln
XM_011517329.1:c.2537G>A	XP_011515631.1:p.Arg846Gln
XM_011517330.1:c.1598G>A	XP_011515632.1:p.Arg533Gln
NM_001160372.3:c.3149G>A	NP_001153844.1:p.Arg1050Gln
NM_001321646.1:c.3122G>A	NP_001308575.1:p.Arg1041Gln
NM_031466.7:c.3443G>A	NP_113654.4:p.Arg1148Gln
XM_011517326.2:c.3416G>A	XP_011515628.1:p.Arg1139Gln
XM_011517330.2:c.1598G>A	XP_011515632.1:p.Arg533Gln
XM_017013894.2:c.1769G>A	XP_016869383.1:p.Arg590Gln
NM_001160372.4:c.3149G>A MANE Select	NP_001153844.1:p.Arg1050Gln
NM_001321646.2:c.3122G>A	NP_001308575.1:p.Arg1041Gln
NM_001374682.1:c.3170G>A	NP_001361611.1:p.Arg1057Gln
NM_001374683.1:c.3038G>A	NP_001361612.1:p.Arg1013Gln
NM_001374684.1:c.3005G>A	NP_001361613.1:p.Arg1002Gln
NM_031466.8:c.3149G>A	NP_113654.5:p.Arg1050Gln
NR_164662.1:n.3311G>A