Canonical Allele Identifier: CA3151491

Gene: TRAPPC11

Linked Data

• ClinVar Variation Id: 261442
• ClinVar RCV Id: RCV000242200 ; RCV000530759 ; RCV000993344
• dbSNP Id: rs141909783
• ExAC: 4:184585165 G / C
• gnomAD v2: 4-184585165-G-C
• gnomAD v3: 4-183664012-G-C
• gnomAD v4: 4-183664012-G-C
• MyVariant Identifiers: chr4:g.184585165G>C (hg19) ; chr4:g.183664012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.183664012G>C , CM000666.2:g.183664012G>C	GRCh38
NC_000004.11:g.184585165G>C , CM000666.1:g.184585165G>C	GRCh37
NC_000004.10:g.184822159G>C	NCBI36
NG_033102.1:g.9746G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334690.11:c.145G>C MANE Select	ENSP00000335371.6:p.Val49Leu
ENST00000334690.10:c.145G>C	ENSP00000335371.6:p.Val49Leu
ENST00000357207.8:c.145G>C	ENSP00000349738.4:p.Val49Leu
ENST00000504526.1:n.291G>C
ENST00000505676.5:c.145G>C	ENSP00000422915.1:p.Val49Leu
NM_021942.5:c.145G>C	NP_068761.4:p.Val49Leu
NM_199053.2:c.145G>C	NP_951008.1:p.Val49Leu
XM_011532180.1:c.145G>C	XP_011530482.1:p.Val49Leu
XM_017008537.2:c.145G>C	XP_016864026.1:p.Val49Leu
XM_017008538.2:c.145G>C	XP_016864027.1:p.Val49Leu
XM_024454179.1:c.145G>C	XP_024309947.1:p.Val49Leu
XM_024454180.1:c.145G>C	XP_024309948.1:p.Val49Leu
XM_024454181.1:c.-1112G>C	XP_024309949.1:n.-1112G>C
XR_001741315.2:n.337G>C
NM_021942.6:c.145G>C MANE Select	NP_068761.4:p.Val49Leu
NM_199053.3:c.145G>C	NP_951008.1:p.Val49Leu