Canonical Allele Identifier: CA144540

Gene: TRAPPC11

Linked Data

• ClinVar Variation Id: 60511
• ClinVar RCV Id: RCV000054409 ; RCV000414573 ; RCV001254697
• dbSNP Id: rs397509418
• ExAC: 4:184605212 G / A
• gnomAD v2: 4-184605212-G-A
• gnomAD v3: 4-183684059-G-A
• gnomAD v4: 4-183684059-G-A
• MyVariant Identifiers: chr4:g.184605212G>A (hg19) ; chr4:g.183684059G>A (hg38)
• PubMed: PMID:23830518

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183684059G>A , CM000666.2:g.183684059G>A	GRCh38
NC_000004.11:g.184605212G>A , CM000666.1:g.184605212G>A	GRCh37
NC_000004.10:g.184842206G>A	NCBI36
NG_033102.1:g.29793G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334690.11:c.1287+5G>A MANE Select	ENSP00000335371.6:n.1287+5G>A
ENST00000334690.10:c.1287+5G>A	ENSP00000335371.6:n.1287+5G>A
ENST00000357207.8:c.1287+5G>A	ENSP00000349738.4:n.1287+5G>A
ENST00000505676.5:c.348+53G>A	ENSP00000422915.1:n.348+53G>A
ENST00000512476.1:c.105+5G>A	ENSP00000421004.1:n.105+5G>A
NM_021942.5:c.1287+5G>A	NP_068761.4:n.1287+5G>A
NM_199053.2:c.1287+5G>A	NP_951008.1:n.1287+5G>A
XM_011532180.1:c.1287+5G>A	XP_011530482.1:n.1287+5G>A
XM_017008537.2:c.1287+5G>A	XP_016864026.1:n.1287+5G>A
XM_017008538.2:c.1287+5G>A	XP_016864027.1:n.1287+5G>A
XM_024454179.1:c.1287+5G>A	XP_024309947.1:n.1287+5G>A
XM_024454180.1:c.1287+5G>A	XP_024309948.1:n.1287+5G>A
XM_024454181.1:c.-64+5G>A	XP_024309949.1:n.-64+5G>A
XR_001741315.2:n.1479+5G>A
NM_021942.6:c.1287+5G>A MANE Select	NP_068761.4:n.1287+5G>A
NM_199053.3:c.1287+5G>A	NP_951008.1:n.1287+5G>A