Canonical Allele Identifier: CA1326509
Community Standard Title: NM_001389617.1(NAV1):c.3571G>A (p.Val1191Ile)
Gene: NAV1 HGNC NCBI
IPO9-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201783758G>A , CM000663.2:g.201783758G>A GRCh38
NC_000001.10:g.201752886G>A , CM000663.1:g.201752886G>A GRCh37
NC_000001.9:g.200019509G>A NCBI36
NG_053179.1:g.140437G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001389617.1:c.3571G>A (NAV1) MANE Select NP_001376546.1:p.Val1191Ile
ENST00000685211.1:c.3571G>A (NAV1) MANE Select ENSP00000510803.1:p.Val1191Ile
NM_001167738.1:c.1537G>A (NAV1) NP_001161210.1:p.Val513Ile
NM_001167738.2:c.1537G>A (NAV1) NP_001161210.1:p.Val513Ile
NM_001389611.1:c.1537G>A (NAV1) NP_001376540.1:p.Val513Ile
NM_001389612.1:c.1537G>A (NAV1) NP_001376541.1:p.Val513Ile
NM_001389613.1:c.1537G>A (NAV1) NP_001376542.1:p.Val513Ile
NM_001389614.1:c.1537G>A (NAV1) NP_001376543.1:p.Val513Ile
NM_001389615.1:c.3571G>A (NAV1) NP_001376544.1:p.Val1191Ile
NM_001389616.1:c.3571G>A (NAV1) NP_001376545.1:p.Val1191Ile
NM_020443.4:c.2710G>A (NAV1) NP_065176.3:p.Val904Ile
NM_020443.5:c.2710G>A (NAV1) NP_065176.3:p.Val904Ile
NR_046696.1:n.684+33469C>T (IPO9-AS1)
ENST00000367295.5:c.1537G>A (NAV1) ENSP00000356264.1:p.Val513Ile
ENST00000367296.8:c.2710G>A (NAV1) ENSP00000356265.4:p.Val904Ile
ENST00000367302.5:c.2749G>A (NAV1) ENSP00000356271.1:p.Val917Ile
ENST00000430015.5:c.1382G>A (NAV1)
ENST00000469130.5:n.593G>A (NAV1)
ENST00000490213.5:n.2012G>A (NAV1)
XM_006711609.2:c.1537G>A (NAV1) XP_006711672.2:p.Val513Ile
XM_006711610.2:c.1537G>A (NAV1) XP_006711673.2:p.Val513Ile
XM_006711611.1:c.1234G>A (NAV1) XP_006711674.1:p.Val412Ile
XM_006711611.2:c.1234G>A (NAV1) XP_006711674.1:p.Val412Ile
XM_011510097.1:c.2710G>A (NAV1) XP_011508399.1:p.Val904Ile
XM_011510097.2:c.2710G>A (NAV1) XP_011508399.1:p.Val904Ile
XM_011510098.1:c.2710G>A (NAV1) XP_011508400.1:p.Val904Ile
XM_011510098.2:c.2710G>A (NAV1) XP_011508400.1:p.Val904Ile
XM_011510099.1:c.2710G>A (NAV1) XP_011508401.1:p.Val904Ile
XM_011510099.2:c.2710G>A (NAV1) XP_011508401.1:p.Val904Ile
XM_011510100.1:c.2710G>A (NAV1) XP_011508402.1:p.Val904Ile
XM_011510100.2:c.2710G>A (NAV1) XP_011508402.1:p.Val904Ile
XM_011510101.1:c.2710G>A (NAV1) XP_011508403.1:p.Val904Ile
XM_011510101.2:c.2710G>A (NAV1) XP_011508403.1:p.Val904Ile
XM_011510102.1:c.2710G>A (NAV1) XP_011508404.1:p.Val904Ile
XM_011510102.2:c.2710G>A (NAV1) XP_011508404.1:p.Val904Ile
XM_011510103.1:c.2779G>A (NAV1) XP_011508405.1:p.Val927Ile
XM_017002751.2:c.2710G>A (NAV1) XP_016858240.1:p.Val904Ile
XM_017002752.1:c.1537G>A (NAV1) XP_016858241.1:p.Val513Ile
XM_017002753.2:c.2710G>A (NAV1) XP_016858242.1:p.Val904Ile
XM_017002754.2:c.2710G>A (NAV1) XP_016858243.1:p.Val904Ile
XM_024450645.1:c.2779G>A (NAV1) XP_024306413.1:p.Val927Ile
XR_921992.1:n.2736G>A (NAV1)