Canonical Allele Identifier: CA280077

Gene: VPS11

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119081189T>G , CM000673.2:g.119081189T>G	GRCh38
NC_000011.9:g.118951899T>G , CM000673.1:g.118951899T>G	GRCh37
NC_000011.8:g.118457109T>G	NCBI36
NG_008093.1:g.1313T>G
NG_029670.1:g.18408T>G
NG_029670.2:g.18408T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621676.5:c.2536T>G MANE Select	ENSP00000481126.1:p.Cys846Gly
ENST00000524454.1:n.120-270T>G
ENST00000614944.4:c.2506T>G	ENSP00000481807.1:p.Cys836Gly
ENST00000620429.4:c.904T>G	ENSP00000479680.1:p.Cys302Gly
ENST00000621676.4:c.2536T>G	ENSP00000481126.1:p.Cys846Gly
ENST00000622309.4:n.2721T>G
NM_001290185.1:c.2506T>G	NP_001277114.1:p.Cys836Gly
NM_021729.5:c.2536T>G	NP_068375.3:p.Cys846Gly
XM_011542898.1:c.1450T>G	XP_011541200.1:p.Cys484Gly
XM_011542899.1:c.1450T>G	XP_011541201.1:p.Cys484Gly
XR_947859.1:n.2580T>G
XM_011542899.3:c.1450T>G	XP_011541201.1:p.Cys484Gly
XM_024448607.1:c.1126T>G	XP_024304375.1:p.Cys376Gly
XR_947859.2:n.2582T>G
NM_001290185.2:c.2506T>G	NP_001277114.1:p.Cys836Gly
NM_001378218.1:c.2548T>G	NP_001365147.1:p.Cys850Gly
NM_001378219.1:c.2548T>G	NP_001365148.1:p.Cys850Gly
NM_001378220.1:c.2521T>G	NP_001365149.1:p.Cys841Gly
NM_001378221.1:c.2518T>G	NP_001365150.1:p.Cys840Gly
NM_021729.6:c.2536T>G MANE Select	NP_068375.3:p.Cys846Gly
NR_165447.1:n.2683T>G
NR_165448.1:n.2120T>G
NR_165449.1:n.2475T>G
NR_165450.1:n.2406T>G
NR_165451.1:n.2227T>G
NR_165452.1:n.2711T>G
NR_165453.1:n.2487T>G
NR_165454.1:n.2294T>G