Canonical Allele Identifier: CA397488581

Gene: VPS53

Linked Data

• gnomAD v4: 17-562510-G-C
• MyVariant Identifiers: chr17:g.465750G>C (hg19) ; chr17:g.562510G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562510G>C , CM000679.2:g.562510G>C	GRCh38
NC_000017.10:g.465750G>C , CM000679.1:g.465750G>C	GRCh37
NC_000017.9:g.412500G>C	NCBI36
NG_034190.1:g.157347C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1462C>G	ENSP00000291074.5:p.Leu488Val
ENST00000437048.7:c.1549C>G MANE Select	ENSP00000401435.2:p.Leu517Val
ENST00000571805.6:c.1549C>G	ENSP00000459312.1:p.Leu517Val
ENST00000572334.7:c.1180C>G	ENSP00000506188.1:p.Leu394Val
ENST00000572607.2:n.379C>G
ENST00000679361.1:c.1549C>G	ENSP00000504978.1:p.Leu517Val
ENST00000679959.1:c.1082C>G	ENSP00000506180.1:n.1082C>G
ENST00000680069.1:c.1549C>G	ENSP00000505145.1:p.Leu517Val
ENST00000680114.1:c.1075C>G	ENSP00000505327.1:p.Leu359Val
ENST00000680128.1:c.1345C>G	ENSP00000506159.1:p.Leu449Val
ENST00000680274.1:n.1111C>G
ENST00000680465.1:c.1549C>G	ENSP00000505997.1:p.Leu517Val
ENST00000680641.1:c.*1369C>G	ENSP00000505237.1:n.*1369C>G
ENST00000680702.1:n.454C>G
ENST00000680704.1:c.1180C>G	ENSP00000506453.1:p.Leu394Val
ENST00000680872.1:c.*675C>G	ENSP00000506605.1:n.*675C>G
ENST00000680944.1:n.944C>G
ENST00000680958.1:n.1456C>G
ENST00000681096.1:c.1090C>G	ENSP00000506052.1:p.Leu364Val
ENST00000681154.1:c.1462C>G	ENSP00000505866.1:p.Leu488Val
ENST00000681160.1:c.1180C>G	ENSP00000504905.1:p.Leu394Val
ENST00000681317.1:c.1549C>G	ENSP00000505190.1:p.Leu517Val
ENST00000681478.1:c.*1369C>G	ENSP00000505041.1:n.*1369C>G
ENST00000681510.1:c.1399C>G	ENSP00000505594.1:p.Leu467Val
ENST00000681600.1:n.644C>G
ENST00000681661.1:c.*530C>G	ENSP00000506596.1:n.*530C>G
ENST00000681830.1:c.1098C>G	ENSP00000505322.1:n.1098C>G
ENST00000681897.1:n.801C>G
ENST00000681902.1:c.1549C>G	ENSP00000505328.1:p.Leu517Val
ENST00000681917.1:c.1018C>G	ENSP00000505944.1:p.Leu340Val
ENST00000681943.1:c.1415C>G	ENSP00000504889.1:n.1415C>G
ENST00000681946.1:c.*530C>G	ENSP00000505563.1:n.*530C>G
ENST00000291074.9:c.1462C>G	ENSP00000291074.5:p.Leu488Val
ENST00000389040.9:c.1405C>G	ENSP00000373692.5:p.Leu469Val
ENST00000401468.7:c.718C>G	ENSP00000384294.3:p.Leu240Val
ENST00000437048.6:c.1549C>G	ENSP00000401435.2:p.Leu517Val
ENST00000571805.5:c.1549C>G	ENSP00000459312.1:p.Leu517Val
ENST00000572607.1:n.177C>G
ENST00000573028.5:c.*996C>G	ENSP00000458311.1:n.*996C>G
ENST00000574029.5:c.207-44871C>G	ENSP00000459159.1:n.207-44871C>G
ENST00000576149.5:n.1319C>G
NM_001128159.2:c.1549C>G	NP_001121631.1:p.Leu517Val
NM_018289.3:c.1462C>G	NP_060759.2:p.Leu488Val
XM_011523953.1:c.955C>G	XP_011522255.1:p.Leu319Val
XR_934061.1:n.1846C>G
XR_934062.1:n.1601C>G
NM_001366253.1:c.1549C>G	NP_001353182.1:p.Leu517Val
NM_001366254.1:c.955C>G	NP_001353183.1:p.Leu319Val
XM_017024817.2:c.1399C>G	XP_016880306.1:p.Leu467Val
XM_017024818.1:c.1180C>G	XP_016880307.1:p.Leu394Val
XR_001752553.2:n.1686C>G
XR_934061.3:n.1836C>G
XR_934062.2:n.1591C>G
NM_001128159.3:c.1549C>G MANE Select	NP_001121631.1:p.Leu517Val
NM_001366253.2:c.1549C>G	NP_001353182.1:p.Leu517Val
NM_001366254.2:c.955C>G	NP_001353183.1:p.Leu319Val
NM_018289.4:c.1462C>G	NP_060759.2:p.Leu488Val