Canonical Allele Identifier: CA397488940

Gene: VPS53

Linked Data

• MyVariant Identifiers: chr17:g.465832A>C (hg19) ; chr17:g.562592A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.562592A>C , CM000679.2:g.562592A>C	GRCh38
NC_000017.10:g.465832A>C , CM000679.1:g.465832A>C	GRCh37
NC_000017.9:g.412582A>C	NCBI36
NG_034190.1:g.157265T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1380T>G	ENSP00000291074.5:p.Ser460Arg
ENST00000437048.7:c.1467T>G MANE Select	ENSP00000401435.2:p.Ser489Arg
ENST00000571805.6:c.1467T>G	ENSP00000459312.1:p.Ser489Arg
ENST00000572334.7:c.1098T>G	ENSP00000506188.1:p.Ser366Arg
ENST00000572607.2:n.297T>G
ENST00000679361.1:c.1467T>G	ENSP00000504978.1:p.Ser489Arg
ENST00000679959.1:c.1000T>G	ENSP00000506180.1:n.1000T>G
ENST00000680069.1:c.1467T>G	ENSP00000505145.1:p.Ser489Arg
ENST00000680114.1:c.993T>G	ENSP00000505327.1:p.Ser331Arg
ENST00000680128.1:c.1263T>G	ENSP00000506159.1:p.Ser421Arg
ENST00000680274.1:n.1029T>G
ENST00000680465.1:c.1467T>G	ENSP00000505997.1:p.Ser489Arg
ENST00000680641.1:c.*1287T>G	ENSP00000505237.1:n.*1287T>G
ENST00000680702.1:n.372T>G
ENST00000680704.1:c.1098T>G	ENSP00000506453.1:p.Ser366Arg
ENST00000680872.1:c.*593T>G	ENSP00000506605.1:n.*593T>G
ENST00000680944.1:n.862T>G
ENST00000680958.1:n.1374T>G
ENST00000681096.1:c.1008T>G	ENSP00000506052.1:p.Ser336Arg
ENST00000681154.1:c.1380T>G	ENSP00000505866.1:p.Ser460Arg
ENST00000681160.1:c.1098T>G	ENSP00000504905.1:p.Ser366Arg
ENST00000681317.1:c.1467T>G	ENSP00000505190.1:p.Ser489Arg
ENST00000681478.1:c.*1287T>G	ENSP00000505041.1:n.*1287T>G
ENST00000681510.1:c.1317T>G	ENSP00000505594.1:p.Ser439Arg
ENST00000681600.1:n.562T>G
ENST00000681661.1:c.*448T>G	ENSP00000506596.1:n.*448T>G
ENST00000681830.1:c.1016T>G	ENSP00000505322.1:n.1016T>G
ENST00000681897.1:n.719T>G
ENST00000681902.1:c.1467T>G	ENSP00000505328.1:p.Ser489Arg
ENST00000681917.1:c.936T>G	ENSP00000505944.1:p.Ser312Arg
ENST00000681943.1:c.1333T>G	ENSP00000504889.1:n.1333T>G
ENST00000681946.1:c.*448T>G	ENSP00000505563.1:n.*448T>G
ENST00000291074.9:c.1380T>G	ENSP00000291074.5:p.Ser460Arg
ENST00000389040.9:c.1323T>G	ENSP00000373692.5:p.Ser441Arg
ENST00000401468.7:c.636T>G	ENSP00000384294.3:p.Ser212Arg
ENST00000437048.6:c.1467T>G	ENSP00000401435.2:p.Ser489Arg
ENST00000571805.5:c.1467T>G	ENSP00000459312.1:p.Ser489Arg
ENST00000572607.1:n.95T>G
ENST00000573028.5:c.*914T>G	ENSP00000458311.1:n.*914T>G
ENST00000574029.5:c.207-44953T>G	ENSP00000459159.1:n.207-44953T>G
ENST00000576149.5:n.1237T>G
NM_001128159.2:c.1467T>G	NP_001121631.1:p.Ser489Arg
NM_018289.3:c.1380T>G	NP_060759.2:p.Ser460Arg
XM_011523953.1:c.873T>G	XP_011522255.1:p.Ser291Arg
XR_934061.1:n.1764T>G
XR_934062.1:n.1519T>G
NM_001366253.1:c.1467T>G	NP_001353182.1:p.Ser489Arg
NM_001366254.1:c.873T>G	NP_001353183.1:p.Ser291Arg
XM_017024817.2:c.1317T>G	XP_016880306.1:p.Ser439Arg
XM_017024818.1:c.1098T>G	XP_016880307.1:p.Ser366Arg
XR_001752553.2:n.1604T>G
XR_934061.3:n.1754T>G
XR_934062.2:n.1509T>G
NM_001128159.3:c.1467T>G MANE Select	NP_001121631.1:p.Ser489Arg
NM_001366253.2:c.1467T>G	NP_001353182.1:p.Ser489Arg
NM_001366254.2:c.873T>G	NP_001353183.1:p.Ser291Arg
NM_018289.4:c.1380T>G	NP_060759.2:p.Ser460Arg