Canonical Allele Identifier: CA278760099

Gene: VPS35L

Linked Data

• dbSNP Id: rs1054462612
• gnomAD v3: 16-19583713-T-C
• gnomAD v4: 16-19583713-T-C
• MyVariant Identifiers: chr16:g.19595035T>C (hg19) ; chr16:g.19583713T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19583713T>C , CM000678.2:g.19583713T>C	GRCh38
NC_000016.9:g.19595035T>C , CM000678.1:g.19595035T>C	GRCh37
NC_000016.8:g.19502536T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417362.7:c.639+2060T>C MANE Select	ENSP00000395973.3:n.639+2060T>C
ENST00000251143.9:c.906+2060T>C	ENSP00000251143.6:n.906+2060T>C
ENST00000417362.6:c.639+2060T>C	ENSP00000395973.3:n.639+2060T>C
ENST00000438132.7:c.906+2060T>C	ENSP00000400815.3:n.906+2060T>C
ENST00000448695.5:c.274+2059T>C	ENSP00000398009.2:n.274+2059T>C
ENST00000513947.8:c.639+2060T>C	ENSP00000458116.3:n.639+2060T>C
ENST00000539322.5:c.*139+2060T>C	ENSP00000438852.1:n.*139+2060T>C
ENST00000542263.5:c.906+2060T>C	ENSP00000442468.1:n.906+2060T>C
ENST00000543152.5:c.-30+2060T>C	ENSP00000457973.1:n.-30+2060T>C
NM_001300743.1:c.906+2060T>C	NP_001287672.1:n.906+2060T>C
NM_020314.5:c.906+2060T>C	NP_064710.4:n.906+2060T>C
XM_005255435.2:c.906+2060T>C	XP_005255492.1:n.906+2060T>C
XM_006721065.2:c.906+2060T>C	XP_006721128.1:n.906+2060T>C
XM_011545895.1:c.906+2060T>C	XP_011544197.1:n.906+2060T>C
XM_011545896.1:c.-321+2060T>C	XP_011544198.1:n.-321+2060T>C
NM_001300743.2:c.639+2060T>C	NP_001287672.2:n.639+2060T>C
NM_001365293.1:c.639+2060T>C	NP_001352222.1:n.639+2060T>C
NM_001365294.1:c.639+2060T>C	NP_001352223.1:n.639+2060T>C
NM_001365295.1:c.-321+2060T>C	NP_001352224.1:n.-321+2060T>C
NM_020314.6:c.639+2060T>C	NP_064710.5:n.639+2060T>C
NR_158160.1:n.666+2060T>C
NR_158161.1:n.666+2060T>C
NM_001300743.3:c.639+2060T>C	NP_001287672.2:n.639+2060T>C
NM_001365293.2:c.639+2060T>C	NP_001352222.1:n.639+2060T>C
NM_001365294.2:c.639+2060T>C	NP_001352223.1:n.639+2060T>C
NM_001365295.2:c.-321+2060T>C	NP_001352224.1:n.-321+2060T>C
NM_020314.7:c.639+2060T>C MANE Select	NP_064710.5:n.639+2060T>C
NR_158160.2:n.666+2060T>C
NR_158161.2:n.666+2060T>C