Canonical Allele Identifier: CA389412934

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269389C>G (hg19) ; chr14:g.33800183C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800183C>G , CM000676.2:g.33800183C>G	GRCh38
NC_000014.8:g.34269389C>G , CM000676.1:g.34269389C>G	GRCh37
NC_000014.7:g.33339140C>G	NCBI36
NG_013036.1:g.865931C>G
NG_013036.2:g.865931C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1876C>G MANE Select	ENSP00000348460.4:p.Leu626Val
ENST00000551634.6:c.1885C>G	ENSP00000448373.2:p.Leu629Val
ENST00000680362.1:c.1776C>G
ENST00000681323.1:c.793+2602C>G
ENST00000346562.6:c.1780C>G	ENSP00000319610.5:p.Leu594Val
ENST00000356141.8:c.1876C>G	ENSP00000348460.4:p.Leu626Val
ENST00000357798.9:c.1837C>G	ENSP00000350446.5:p.Leu613Val
ENST00000548645.5:c.1786C>G	ENSP00000448916.1:p.Leu596Val
ENST00000551492.5:c.1891C>G	ENSP00000450392.1:p.Leu631Val
ENST00000551634.5:c.1798C>G	ENSP00000448373.1:p.Leu600Val
NM_001164749.1:c.1876C>G	NP_001158221.1:p.Leu626Val
NM_001165893.1:c.1786C>G	NP_001159365.1:p.Leu596Val
NM_022123.2:c.1780C>G	NP_071406.1:p.Leu594Val
NM_173159.2:c.1837C>G	NP_775182.1:p.Leu613Val
XM_005267991.2:c.1897C>G	XP_005268048.1:p.Leu633Val
XM_005267992.2:c.1891C>G	XP_005268049.1:p.Leu631Val
XM_005267993.2:c.1837C>G	XP_005268050.1:p.Leu613Val
XM_011537067.1:c.1927C>G	XP_011535369.1:p.Leu643Val
XM_011537068.1:c.1918C>G	XP_011535370.1:p.Leu640Val
XM_011537069.1:c.1888C>G	XP_011535371.1:p.Leu630Val
XM_011537070.1:c.1831C>G	XP_011535372.1:p.Leu611Val
XM_011537071.1:c.1798C>G	XP_011535373.1:p.Leu600Val
XM_011537072.1:c.1777C>G	XP_011535374.1:p.Leu593Val
XM_011537073.1:c.1570C>G	XP_011535375.1:p.Leu524Val
XM_011537074.1:c.1570C>G	XP_011535376.1:p.Leu524Val
XM_005267991.3:c.1984C>G	XP_005268048.2:p.Leu662Val
XM_005267992.3:c.1978C>G	XP_005268049.2:p.Leu660Val
XM_011537067.2:c.1927C>G	XP_011535369.1:p.Leu643Val
XM_011537069.2:c.1975C>G	XP_011535371.2:p.Leu659Val
XM_011537070.2:c.1831C>G	XP_011535372.1:p.Leu611Val
XM_011537071.2:c.1885C>G	XP_011535373.2:p.Leu629Val
XM_011537072.2:c.1777C>G	XP_011535374.1:p.Leu593Val
XM_017021582.1:c.2035C>G	XP_016877071.1:p.Leu679Val
XM_017021583.1:c.2026C>G	XP_016877072.1:p.Leu676Val
XM_017021584.1:c.1945C>G	XP_016877073.1:p.Leu649Val
XM_017021585.1:c.1894C>G	XP_016877074.1:p.Leu632Val
XM_017021586.1:c.1570C>G	XP_016877075.1:p.Leu524Val
XM_017021587.1:c.1570C>G	XP_016877076.1:p.Leu524Val
XM_017021588.1:c.1570C>G	XP_016877077.1:p.Leu524Val
NM_001164749.2:c.1876C>G MANE Select	NP_001158221.1:p.Leu626Val
NM_001165893.2:c.1786C>G	NP_001159365.1:p.Leu596Val
NM_022123.3:c.1780C>G	NP_071406.1:p.Leu594Val
NM_173159.3:c.1837C>G	NP_775182.1:p.Leu613Val
NM_001394988.1:c.1831C>G	NP_001381917.1:p.Leu611Val
NM_001394989.1:c.1777C>G	NP_001381918.1:p.Leu593Val