Canonical Allele Identifier: CA390170514

Gene: ZFYVE26

Linked Data

• dbSNP Id: rs1292729275
• gnomAD v2: 14-68249641-G-T
• gnomAD v4: 14-67782924-G-T
• MyVariant Identifiers: chr14:g.68249641G>T (hg19) ; chr14:g.67782924G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67782924G>T , CM000676.2:g.67782924G>T	GRCh38
NC_000014.8:g.68249641G>T , CM000676.1:g.68249641G>T	GRCh37
NC_000014.7:g.67319394G>T	NCBI36
NG_011836.1:g.38666C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.4228C>A MANE Select	ENSP00000251119.5:p.Leu1410Ile
ENST00000676512.1:c.4228C>A	ENSP00000504552.1:p.Leu1410Ile
ENST00000676620.1:c.4228C>A	ENSP00000504587.1:p.Leu1410Ile
ENST00000678386.1:c.4228C>A	ENSP00000503677.1:p.Leu1410Ile
ENST00000347230.8:c.4228C>A	ENSP00000251119.5:p.Leu1410Ile
ENST00000554523.5:n.4365C>A
ENST00000554557.5:c.*2350+175C>A	ENSP00000450431.1:n.*2350+175C>A
ENST00000555452.1:c.4228C>A	ENSP00000450603.1:p.Leu1410Ile
NM_015346.3:c.4228C>A	NP_056161.2:p.Leu1410Ile
XM_006720093.2:c.4228C>A	XP_006720156.1:p.Leu1410Ile
XM_011536606.1:c.2719C>A	XP_011534908.1:p.Leu907Ile
XM_011536607.1:c.1903C>A	XP_011534909.1:p.Leu635Ile
XM_011536608.1:c.1810C>A	XP_011534910.1:p.Leu604Ile
XM_011536609.1:c.4228C>A	XP_011534911.1:p.Leu1410Ile
XM_011536609.2:c.4228C>A	XP_011534911.1:p.Leu1410Ile
XM_017021124.1:c.4228C>A	XP_016876613.1:p.Leu1410Ile
XM_017021125.1:c.4228C>A	XP_016876614.1:p.Leu1410Ile
XM_017021126.1:c.2719C>A	XP_016876615.1:p.Leu907Ile
XM_017021127.2:c.1903C>A	XP_016876616.1:p.Leu635Ile
XM_017021128.1:c.1810C>A	XP_016876617.1:p.Leu604Ile
NM_015346.4:c.4228C>A MANE Select	NP_056161.2:p.Leu1410Ile