Canonical Allele Identifier: CA9533904

Gene: NPAS1

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
NM_002517.4:c.388G>A MANE Select	NP_002508.2:p.Val130Ile
ENST00000602212.6:c.388G>A MANE Select	ENSP00000469142.1:p.Val130Ile
NM_002517.2:c.388G>A	NP_002508.2:p.Val130Ile
NM_002517.3:c.388G>A	NP_002508.2: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
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
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