Canonical Allele Identifier: CA3151542

Gene: TRAPPC11

Linked Data

• ClinVar Variation Id: 261452
• ClinVar RCV Id: RCV000249257 ; RCV000529135 ; RCV001552666
• dbSNP Id: rs148105529
• ExAC: 4:184587487 A / C
• gnomAD v2: 4-184587487-A-C
• gnomAD v3: 4-183666334-A-C
• gnomAD v4: 4-183666334-A-C
• MyVariant Identifiers: chr4:g.184587487A>C (hg19) ; chr4:g.183666334A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183666334A>C , CM000666.2:g.183666334A>C	GRCh38
NC_000004.11:g.184587487A>C , CM000666.1:g.184587487A>C	GRCh37
NC_000004.10:g.184824481A>C	NCBI36
NG_033102.1:g.12068A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334690.11:c.282A>C MANE Select	ENSP00000335371.6:p.Pro94=
ENST00000334690.10:c.282A>C	ENSP00000335371.6:p.Pro94=
ENST00000357207.8:c.282A>C	ENSP00000349738.4:p.Pro94=
ENST00000504526.1:n.459A>C
ENST00000505676.5:c.162+2305A>C	ENSP00000422915.1:n.162+2305A>C
ENST00000509857.5:n.133A>C
NM_021942.5:c.282A>C	NP_068761.4:p.Pro94=
NM_199053.2:c.282A>C	NP_951008.1:p.Pro94=
XM_011532180.1:c.282A>C	XP_011530482.1:p.Pro94=
XM_017008537.2:c.282A>C	XP_016864026.1:p.Pro94=
XM_017008538.2:c.282A>C	XP_016864027.1:p.Pro94=
XM_024454179.1:c.282A>C	XP_024309947.1:p.Pro94=
XM_024454180.1:c.282A>C	XP_024309948.1:p.Pro94=
XM_024454181.1:c.-975A>C	XP_024309949.1:n.-975A>C
XR_001741315.2:n.474A>C
NM_021942.6:c.282A>C MANE Select	NP_068761.4:p.Pro94=
NM_199053.3:c.282A>C	NP_951008.1:p.Pro94=