Canonical Allele Identifier: CA6313393

Gene: VPS11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119076924C>T , CM000673.2:g.119076924C>T	GRCh38
NC_000011.9:g.118947634C>T , CM000673.1:g.118947634C>T	GRCh37
NC_000011.8:g.118452844C>T	NCBI36
NG_029670.1:g.14143C>T
NG_029670.2:g.14143C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021729.6:c.1266C>T MANE Select	NP_068375.3:p.Tyr422=
ENST00000621676.5:c.1266C>T MANE Select	ENSP00000481126.1:p.Tyr422=
NM_001290185.1:c.1236C>T	NP_001277114.1:p.Tyr412=
NM_001290185.2:c.1236C>T	NP_001277114.1:p.Tyr412=
NM_001378218.1:c.1278C>T	NP_001365147.1:p.Tyr426=
NM_001378219.1:c.1278C>T	NP_001365148.1:p.Tyr426=
NM_001378220.1:c.1251C>T	NP_001365149.1:p.Tyr417=
NM_001378221.1:c.1248C>T	NP_001365150.1:p.Tyr416=
NM_021729.5:c.1266C>T	NP_068375.3:p.Tyr422=
NR_165447.1:n.1413C>T
NR_165448.1:n.822C>T
NR_165449.1:n.1205C>T
NR_165450.1:n.1136C>T
NR_165451.1:n.957C>T
NR_165452.1:n.1413C>T
NR_165453.1:n.1217C>T
NR_165454.1:n.1024C>T
ENST00000526829.1:n.1948C>T
ENST00000530809.2:c.236C>T
ENST00000614944.4:c.1236C>T	ENSP00000481807.1:p.Tyr412=
ENST00000620429.4:c.-367C>T	ENSP00000479680.1:n.-367C>T
ENST00000621676.4:c.1266C>T	ENSP00000481126.1:p.Tyr422=
ENST00000622309.4:n.1131C>T
XM_011542898.1:c.180C>T	XP_011541200.1:p.Tyr60=
XM_011542899.1:c.180C>T	XP_011541201.1:p.Tyr60=
XM_011542899.3:c.180C>T	XP_011541201.1:p.Tyr60=
XM_024448607.1:c.-562C>T	XP_024304375.1:n.-562C>T
XR_947859.1:n.1296C>T
XR_947859.2:n.1298C>T