Canonical Allele Identifier: CA360271465

Gene: ZFYVE16

Linked Data

• ClinVar Variation Id: 545111
• ClinVar RCV Id: RCV000656334
• dbSNP Id: rs1554047435
• gnomAD v4: 5-80451544-G-T
• MyVariant Identifiers: chr5:g.79747363G>T (hg19) ; chr5:g.80451544G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80451544G>T , CM000667.2:g.80451544G>T	GRCh38
NC_000005.9:g.79747363G>T , CM000667.1:g.79747363G>T	GRCh37
NC_000005.8:g.79783119G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505560.5:c.3442G>T MANE Select	ENSP00000426848.1:p.Asp1148Tyr
ENST00000338008.9:c.3442G>T	ENSP00000337159.5:p.Asp1148Tyr
ENST00000505560.4:c.3442G>T	ENSP00000426848.1:p.Asp1148Tyr
ENST00000510158.5:c.3442G>T	ENSP00000423663.1:p.Asp1148Tyr
ENST00000511829.5:n.840G>T
ENST00000512558.5:n.3580G>T
NM_001105251.2:c.3442G>T	NP_001098721.1:p.Asp1148Tyr
NM_001284236.1:c.3442G>T	NP_001271165.1:p.Asp1148Tyr
NM_014733.4:c.3442G>T	NP_055548.3:p.Asp1148Tyr
XM_005248632.3:c.3442G>T	XP_005248689.1:p.Asp1148Tyr
XM_011543752.1:c.3442G>T	XP_011542054.1:p.Asp1148Tyr
XM_011543753.1:c.3442G>T	XP_011542055.1:p.Asp1148Tyr
NM_001105251.3:c.3442G>T	NP_001098721.1:p.Asp1148Tyr
NM_001284236.2:c.3442G>T	NP_001271165.1:p.Asp1148Tyr
NM_001349434.1:c.3442G>T	NP_001336363.1:p.Asp1148Tyr
NM_014733.5:c.3442G>T	NP_055548.3:p.Asp1148Tyr
NR_146172.1:n.3953G>T
NR_146173.1:n.3727G>T
NR_146174.1:n.3898G>T
XM_005248632.4:c.3442G>T	XP_005248689.1:p.Asp1148Tyr
XM_017010091.1:c.3442G>T	XP_016865580.1:p.Asp1148Tyr
XM_017010092.2:c.3442G>T	XP_016865581.1:p.Asp1148Tyr
XM_017010096.1:c.721G>T	XP_016865585.1:p.Asp241Tyr
XM_024446270.1:c.3442G>T	XP_024302038.1:p.Asp1148Tyr
XM_024446271.1:c.1006G>T	XP_024302039.1:p.Asp336Tyr
XM_024446272.1:c.1006G>T	XP_024302040.1:p.Asp336Tyr
XM_024446273.1:c.1006G>T	XP_024302041.1:p.Asp336Tyr
XR_001742373.1:n.3622G>T
XR_001742375.1:n.3871G>T
XR_001742376.2:n.3243G>T
XR_001742377.2:n.3433G>T
XR_001742378.2:n.3288G>T
XR_001742379.2:n.3243G>T
XR_001742380.2:n.3749G>T
XR_001742382.2:n.3770G>T
XR_002956199.1:n.6643G>T
NM_001284236.3:c.3442G>T MANE Select	NP_001271165.2:p.Asp1148Tyr
NM_001105251.4:c.3442G>T	NP_001098721.2:p.Asp1148Tyr
NM_001349434.2:c.3442G>T	NP_001336363.2:p.Asp1148Tyr
NM_014733.6:c.3442G>T	NP_055548.4:p.Asp1148Tyr
NR_146172.2:n.3902G>T
NR_146173.2:n.3676G>T
NR_146174.2:n.3847G>T