Canonical Allele Identifier: CA390169967

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 1472825
• ClinVar RCV Id: RCV002005102
• dbSNP Id: rs2039534702
• MyVariant Identifiers: chr14:g.68249500A>T (hg19) ; chr14:g.67782783A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67782783A>T , CM000676.2:g.67782783A>T	GRCh38
NC_000014.8:g.68249500A>T , CM000676.1:g.68249500A>T	GRCh37
NC_000014.7:g.67319253A>T	NCBI36
NG_011836.1:g.38807T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.4369T>A MANE Select	ENSP00000251119.5:p.Cys1457Ser
ENST00000676512.1:c.4369T>A	ENSP00000504552.1:p.Cys1457Ser
ENST00000676620.1:c.4369T>A	ENSP00000504587.1:p.Cys1457Ser
ENST00000678386.1:c.4369T>A	ENSP00000503677.1:p.Cys1457Ser
ENST00000347230.8:c.4369T>A	ENSP00000251119.5:p.Cys1457Ser
ENST00000554523.5:n.4506T>A
ENST00000554557.5:c.*2350+316T>A	ENSP00000450431.1:n.*2350+316T>A
ENST00000555452.1:c.4369T>A	ENSP00000450603.1:p.Cys1457Ser
NM_015346.3:c.4369T>A	NP_056161.2:p.Cys1457Ser
XM_006720093.2:c.4369T>A	XP_006720156.1:p.Cys1457Ser
XM_011536606.1:c.2860T>A	XP_011534908.1:p.Cys954Ser
XM_011536607.1:c.2044T>A	XP_011534909.1:p.Cys682Ser
XM_011536608.1:c.1951T>A	XP_011534910.1:p.Cys651Ser
XM_011536609.1:c.4369T>A	XP_011534911.1:p.Cys1457Ser
XM_011536609.2:c.4369T>A	XP_011534911.1:p.Cys1457Ser
XM_017021124.1:c.4369T>A	XP_016876613.1:p.Cys1457Ser
XM_017021125.1:c.4369T>A	XP_016876614.1:p.Cys1457Ser
XM_017021126.1:c.2860T>A	XP_016876615.1:p.Cys954Ser
XM_017021127.2:c.2044T>A	XP_016876616.1:p.Cys682Ser
XM_017021128.1:c.1951T>A	XP_016876617.1:p.Cys651Ser
NM_015346.4:c.4369T>A MANE Select	NP_056161.2:p.Cys1457Ser