Canonical Allele Identifier: CA9533904
Gene: NPAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.47032307G>A
GRCh37 chr19:g.47535565G>A
Revel Score:
ENST00000449844 0.049
gnomAD v2:
19:47535565 G / A
gnomAD v3:
19:47032307 G / A
gnomAD v4:
chr19-47032307-G-A
Joint Max Group AF 0.0005053 (SAS)
Genomes Max Group AF 0.00028313 (SAS)
Exomes Max Group AF 0.00049194 (SAS)
ClinVar Allele:
2292368
ClinVar RCV:
RCV004150176
ClinVar Variation:
2301286
dbSNP:
558643878
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47032307G>A , CM000681.2:g.47032307G>A GRCh38
NC_000019.9:g.47535565G>A , CM000681.1:g.47535565G>A GRCh37
NC_000019.8:g.52227405G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000602212.6:c.388G>A MANE Select ENSP00000469142.1:p.Val130Ile
ENST00000449844.6:c.388G>A ENSP00000405290.1:p.Val130Ile
ENST00000602189.5:c.-141G>A ENSP00000472679.1:n.-141G>A
ENST00000602212.5:c.388G>A ENSP00000469142.1:p.Val130Ile
NM_002517.2:c.388G>A NP_002508.2:p.Val130Ile
XM_006723231.2:c.388G>A XP_006723294.1:p.Val130Ile
XM_011526997.1:c.388G>A XP_011525299.1:p.Val130Ile
XM_011526998.1:c.388G>A XP_011525300.1:p.Val130Ile
XM_011526999.1:c.388G>A XP_011525301.1:p.Val130Ile
XM_011527000.1:c.388G>A XP_011525302.1:p.Val130Ile
XM_011527001.1:c.388G>A XP_011525303.1:p.Val130Ile
XM_011527002.1:c.388G>A XP_011525304.1:p.Val130Ile
XM_011527006.1:c.388G>A XP_011525308.1:p.Val130Ile
XM_011527007.1:c.388G>A XP_011525309.1:p.Val130Ile
NM_002517.3:c.388G>A NP_002508.2:p.Val130Ile
XM_017026844.1:c.269G>A XP_016882333.1:p.Gly90Asp
XM_024451524.1:c.269G>A XP_024307292.1:p.Gly90Asp
XM_024451525.1:c.-141G>A XP_024307293.1:n.-141G>A
NM_002517.4:c.388G>A MANE Select NP_002508.2:p.Val130Ile
Search 100 bp 5'
Search 100 bp 3'