Canonical Allele Identifier: CA232221

Gene: TRAPPC10

Linked Data

• ClinVar Variation Id: 91948
• ClinVar RCV Id: RCV000122505
• dbSNP Id: rs386352376
• ExAC: 21:45511862 A / G
• gnomAD v2: 21-45511862-A-G
• gnomAD v4: 21-44091981-A-G
• MyVariant Identifiers: chr21:g.45511862A>G (hg19) ; chr21:g.44091981A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44091981A>G , CM000683.2:g.44091981A>G	GRCh38
NC_000021.8:g.45511862A>G , CM000683.1:g.45511862A>G	GRCh37
NC_000021.7:g.44336290A>G	NCBI36
NG_008658.1:g.84657A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291574.9:c.2929A>G MANE Select	ENSP00000291574.4:p.Ser977Gly
ENST00000291574.8:c.2929A>G	ENSP00000291574.4:p.Ser977Gly
ENST00000422875.5:c.*2247A>G	ENSP00000402221.1:n.*2247A>G
ENST00000459741.5:n.1954A>G
ENST00000465905.5:n.256A>G
ENST00000469521.5:n.233A>G
ENST00000483973.5:n.240A>G
ENST00000485621.1:n.229A>G
ENST00000486746.5:n.213A>G
NM_003274.4:c.2929A>G	NP_003265.3:p.Ser977Gly
XM_005261168.3:c.2806A>G	XP_005261225.1:p.Ser936Gly
XM_011529714.1:c.3040A>G	XP_011528016.1:p.Ser1014Gly
XM_011529715.1:c.2917A>G	XP_011528017.1:p.Ser973Gly
XM_011529716.1:c.2893A>G	XP_011528018.1:p.Ser965Gly
XM_011529717.1:c.3040A>G	XP_011528019.1:p.Ser1014Gly
XM_011529718.1:c.3040A>G	XP_011528020.1:p.Ser1014Gly
XM_011529719.1:c.2596A>G	XP_011528021.1:p.Ser866Gly
XM_011529720.1:c.3040A>G	XP_011528022.1:p.Ser1014Gly
XM_011529721.1:c.2473A>G	XP_011528023.1:p.Ser825Gly
XM_011529722.1:c.2428A>G	XP_011528024.1:p.Ser810Gly
XM_011529723.1:c.2338A>G	XP_011528025.1:p.Ser780Gly
XM_011529724.1:c.2981+2048A>G	XP_011528026.1:n.2981+2048A>G
XM_011529725.1:c.2981+2048A>G	XP_011528027.1:n.2981+2048A>G
XM_011529726.1:c.2981+2048A>G	XP_011528028.1:n.2981+2048A>G
XM_011529727.1:c.2173A>G	XP_011528029.1:p.Ser725Gly
XM_011529728.1:c.2062A>G	XP_011528030.1:p.Ser688Gly
XM_011529729.1:c.2026A>G	XP_011528031.1:p.Ser676Gly
XR_937558.1:n.3165A>G
NM_001351709.1:c.1528A>G	NP_001338638.1:p.Ser510Gly
XM_005261168.4:c.2806A>G	XP_005261225.1:p.Ser936Gly
XM_011529714.2:c.3040A>G	XP_011528016.1:p.Ser1014Gly
XM_011529715.2:c.2917A>G	XP_011528017.1:p.Ser973Gly
XM_011529716.2:c.2893A>G	XP_011528018.1:p.Ser965Gly
XM_011529717.2:c.3040A>G	XP_011528019.1:p.Ser1014Gly
XM_011529718.2:c.3040A>G	XP_011528020.1:p.Ser1014Gly
XM_011529719.2:c.2596A>G	XP_011528021.1:p.Ser866Gly
XM_011529720.2:c.3040A>G	XP_011528022.1:p.Ser1014Gly
XM_011529721.2:c.2473A>G	XP_011528023.1:p.Ser825Gly
XM_011529722.2:c.2428A>G	XP_011528024.1:p.Ser810Gly
XM_011529723.2:c.2338A>G	XP_011528025.1:p.Ser780Gly
XM_011529725.2:c.2981+2048A>G	XP_011528027.1:n.2981+2048A>G
XM_011529726.2:c.2981+2048A>G	XP_011528028.1:n.2981+2048A>G
XM_011529727.2:c.2173A>G	XP_011528029.1:p.Ser725Gly
XM_011529728.3:c.2062A>G	XP_011528030.1:p.Ser688Gly
XM_011529729.2:c.2026A>G	XP_011528031.1:p.Ser676Gly
XM_017028454.2:c.2782A>G	XP_016883943.1:p.Ser928Gly
XM_024452128.1:c.2467A>G	XP_024307896.1:p.Ser823Gly
XR_001754893.1:n.3143+2048A>G
XR_001754896.1:n.2949A>G
XR_937558.2:n.3202A>G
NM_003274.5:c.2929A>G MANE Select	NP_003265.3:p.Ser977Gly