Canonical Allele Identifier: CA2242366328

Gene: VPS53

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.532858A= , CM000679.2:g.532858A=	GRCh38
NC_000017.10:g.436098A= , CM000679.1:g.436098A=	GRCh37
NC_000017.9:g.382848A=	NCBI36
NG_034190.1:g.186999T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291074.10:c.1982T=	ENSP00000291074.5:p.Met661=
ENST00000437048.7:c.2069T= MANE Select	ENSP00000401435.2:p.Met690=
ENST00000571805.6:c.2069T=	ENSP00000459312.1:p.Met690=
ENST00000572334.7:c.1700T=	ENSP00000506188.1:p.Met567=
ENST00000679817.1:c.299T=	ENSP00000505032.1:p.Met100=
ENST00000680128.1:c.1865T=	ENSP00000506159.1:p.Met622=
ENST00000680465.1:c.2069T=	ENSP00000505997.1:p.Met690=
ENST00000680641.1:c.*3318T=	ENSP00000505237.1:n.*3318T=
ENST00000680704.1:c.1700T=	ENSP00000506453.1:p.Met567=
ENST00000680872.1:c.*1195T=	ENSP00000506605.1:n.*1195T=
ENST00000681050.1:c.282T=
ENST00000681096.1:c.1610T=	ENSP00000506052.1:p.Met537=
ENST00000681103.1:c.299T=	ENSP00000505892.1:p.Met100=
ENST00000681160.1:c.1700T=	ENSP00000504905.1:p.Met567=
ENST00000681317.1:c.2015+4170T=	ENSP00000505190.1:n.2015+4170T=
ENST00000681478.1:c.*1889T=	ENSP00000505041.1:n.*1889T=
ENST00000681510.1:c.1919T=	ENSP00000505594.1:p.Met640=
ENST00000681600.1:n.1164T=
ENST00000681661.1:c.*1050T=	ENSP00000506596.1:n.*1050T=
ENST00000681858.1:c.299T=	ENSP00000505044.1:p.Met100=
ENST00000681917.1:c.1538T=	ENSP00000505944.1:p.Met513=
ENST00000681943.1:c.1787T=	ENSP00000504889.1:n.1787T=
ENST00000681946.1:c.*1050T=	ENSP00000505563.1:n.*1050T=
ENST00000291074.9:c.1982T=	ENSP00000291074.5:p.Met661=
ENST00000389040.9:c.1872T=	ENSP00000373692.5:n.1872T=
ENST00000401468.7:c.1238T=	ENSP00000384294.3:p.Met413=
ENST00000437048.6:c.2069T=	ENSP00000401435.2:p.Met690=
ENST00000570771.1:n.136T=
ENST00000571805.5:c.2069T=	ENSP00000459312.1:p.Met690=
ENST00000573028.5:c.*1516T=	ENSP00000458311.1:n.*1516T=
ENST00000574029.5:c.207-15219T=	ENSP00000459159.1:n.207-15219T=
ENST00000576149.5:n.1839T=
NM_001128159.2:c.2069T=	NP_001121631.1:p.Met690=
NM_018289.3:c.1982T=	NP_060759.2:p.Met661=
XM_011523953.1:c.1475T=	XP_011522255.1:p.Met492=
XR_934061.1:n.2366T=
XR_934133.1:n.291-7531A=
NM_001366253.1:c.2069T=	NP_001353182.1:p.Met690=
NM_001366254.1:c.1475T=	NP_001353183.1:p.Met492=
XM_017024817.2:c.1919T=	XP_016880306.1:p.Met640=
XM_017024818.1:c.1700T=	XP_016880307.1:p.Met567=
XR_001752553.2:n.2206T=
XR_934061.3:n.2356T=
NM_001128159.3:c.2069T= MANE Select	NP_001121631.1:p.Met690=
NM_001366253.2:c.2069T=	NP_001353182.1:p.Met690=
NM_001366254.2:c.1475T=	NP_001353183.1:p.Met492=
NM_018289.4:c.1982T=	NP_060759.2:p.Met661=