Canonical Allele Identifier: CA397488584

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465751G>C (hg19) ; chr17:g.562511G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562511G>C , CM000679.2:g.562511G>C	GRCh38
NC_000017.10:g.465751G>C , CM000679.1:g.465751G>C	GRCh37
NC_000017.9:g.412501G>C	NCBI36
NG_034190.1:g.157346C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000291074.10:c.1461C>G	ENSP00000291074.5:p.Asn487Lys
ENST00000437048.7:c.1548C>G MANE Select	ENSP00000401435.2:p.Asn516Lys
ENST00000571805.6:c.1548C>G	ENSP00000459312.1:p.Asn516Lys
ENST00000572334.7:c.1179C>G	ENSP00000506188.1:p.Asn393Lys
ENST00000572607.2:n.378C>G
ENST00000679361.1:c.1548C>G	ENSP00000504978.1:p.Asn516Lys
ENST00000679959.1:c.1081C>G	ENSP00000506180.1:n.1081C>G
ENST00000680069.1:c.1548C>G	ENSP00000505145.1:p.Asn516Lys
ENST00000680114.1:c.1074C>G	ENSP00000505327.1:p.Asn358Lys
ENST00000680128.1:c.1344C>G	ENSP00000506159.1:p.Asn448Lys
ENST00000680274.1:n.1110C>G
ENST00000680465.1:c.1548C>G	ENSP00000505997.1:p.Asn516Lys
ENST00000680641.1:c.*1368C>G	ENSP00000505237.1:n.*1368C>G
ENST00000680702.1:n.453C>G
ENST00000680704.1:c.1179C>G	ENSP00000506453.1:p.Asn393Lys
ENST00000680872.1:c.*674C>G	ENSP00000506605.1:n.*674C>G
ENST00000680944.1:n.943C>G
ENST00000680958.1:n.1455C>G
ENST00000681096.1:c.1089C>G	ENSP00000506052.1:p.Asn363Lys
ENST00000681154.1:c.1461C>G	ENSP00000505866.1:p.Asn487Lys
ENST00000681160.1:c.1179C>G	ENSP00000504905.1:p.Asn393Lys
ENST00000681317.1:c.1548C>G	ENSP00000505190.1:p.Asn516Lys
ENST00000681478.1:c.*1368C>G	ENSP00000505041.1:n.*1368C>G
ENST00000681510.1:c.1398C>G	ENSP00000505594.1:p.Asn466Lys
ENST00000681600.1:n.643C>G
ENST00000681661.1:c.*529C>G	ENSP00000506596.1:n.*529C>G
ENST00000681830.1:c.1097C>G	ENSP00000505322.1:n.1097C>G
ENST00000681897.1:n.800C>G
ENST00000681902.1:c.1548C>G	ENSP00000505328.1:p.Asn516Lys
ENST00000681917.1:c.1017C>G	ENSP00000505944.1:p.Asn339Lys
ENST00000681943.1:c.1414C>G	ENSP00000504889.1:n.1414C>G
ENST00000681946.1:c.*529C>G	ENSP00000505563.1:n.*529C>G
ENST00000291074.9:c.1461C>G	ENSP00000291074.5:p.Asn487Lys
ENST00000389040.9:c.1404C>G	ENSP00000373692.5:p.Asn468Lys
ENST00000401468.7:c.717C>G	ENSP00000384294.3:p.Asn239Lys
ENST00000437048.6:c.1548C>G	ENSP00000401435.2:p.Asn516Lys
ENST00000571805.5:c.1548C>G	ENSP00000459312.1:p.Asn516Lys
ENST00000572607.1:n.176C>G
ENST00000573028.5:c.*995C>G	ENSP00000458311.1:n.*995C>G
ENST00000574029.5:c.207-44872C>G	ENSP00000459159.1:n.207-44872C>G
ENST00000576149.5:n.1318C>G
NM_001128159.2:c.1548C>G	NP_001121631.1:p.Asn516Lys
NM_018289.3:c.1461C>G	NP_060759.2:p.Asn487Lys
XM_011523953.1:c.954C>G	XP_011522255.1:p.Asn318Lys
XR_934061.1:n.1845C>G
XR_934062.1:n.1600C>G
NM_001366253.1:c.1548C>G	NP_001353182.1:p.Asn516Lys
NM_001366254.1:c.954C>G	NP_001353183.1:p.Asn318Lys
XM_017024817.2:c.1398C>G	XP_016880306.1:p.Asn466Lys
XM_017024818.1:c.1179C>G	XP_016880307.1:p.Asn393Lys
XR_001752553.2:n.1685C>G
XR_934061.3:n.1835C>G
XR_934062.2:n.1590C>G
NM_001128159.3:c.1548C>G MANE Select	NP_001121631.1:p.Asn516Lys
NM_001366253.2:c.1548C>G	NP_001353182.1:p.Asn516Lys
NM_001366254.2:c.954C>G	NP_001353183.1:p.Asn318Lys
NM_018289.4:c.1461C>G	NP_060759.2:p.Asn487Lys