Canonical Allele Identifier: CA389412535

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269318A>T (hg19) ; chr14:g.33800112A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800112A>T , CM000676.2:g.33800112A>T	GRCh38
NC_000014.8:g.34269318A>T , CM000676.1:g.34269318A>T	GRCh37
NC_000014.7:g.33339069A>T	NCBI36
NG_013036.1:g.865860A>T
NG_013036.2:g.865860A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1805A>T MANE Select	ENSP00000348460.4:p.Lys602Ile
ENST00000551634.6:c.1814A>T	ENSP00000448373.2:p.Lys605Ile
ENST00000680362.1:c.1705A>T
ENST00000681323.1:c.793+2531A>T
ENST00000346562.6:c.1709A>T	ENSP00000319610.5:p.Lys570Ile
ENST00000356141.8:c.1805A>T	ENSP00000348460.4:p.Lys602Ile
ENST00000357798.9:c.1766A>T	ENSP00000350446.5:p.Lys589Ile
ENST00000548645.5:c.1715A>T	ENSP00000448916.1:p.Lys572Ile
ENST00000551492.5:c.1820A>T	ENSP00000450392.1:p.Lys607Ile
ENST00000551634.5:c.1727A>T	ENSP00000448373.1:p.Lys576Ile
NM_001164749.1:c.1805A>T	NP_001158221.1:p.Lys602Ile
NM_001165893.1:c.1715A>T	NP_001159365.1:p.Lys572Ile
NM_022123.2:c.1709A>T	NP_071406.1:p.Lys570Ile
NM_173159.2:c.1766A>T	NP_775182.1:p.Lys589Ile
XM_005267991.2:c.1826A>T	XP_005268048.1:p.Lys609Ile
XM_005267992.2:c.1820A>T	XP_005268049.1:p.Lys607Ile
XM_005267993.2:c.1766A>T	XP_005268050.1:p.Lys589Ile
XM_011537067.1:c.1856A>T	XP_011535369.1:p.Lys619Ile
XM_011537068.1:c.1847A>T	XP_011535370.1:p.Lys616Ile
XM_011537069.1:c.1817A>T	XP_011535371.1:p.Lys606Ile
XM_011537070.1:c.1760A>T	XP_011535372.1:p.Lys587Ile
XM_011537071.1:c.1727A>T	XP_011535373.1:p.Lys576Ile
XM_011537072.1:c.1706A>T	XP_011535374.1:p.Lys569Ile
XM_011537073.1:c.1499A>T	XP_011535375.1:p.Lys500Ile
XM_011537074.1:c.1499A>T	XP_011535376.1:p.Lys500Ile
XM_005267991.3:c.1913A>T	XP_005268048.2:p.Lys638Ile
XM_005267992.3:c.1907A>T	XP_005268049.2:p.Lys636Ile
XM_011537067.2:c.1856A>T	XP_011535369.1:p.Lys619Ile
XM_011537069.2:c.1904A>T	XP_011535371.2:p.Lys635Ile
XM_011537070.2:c.1760A>T	XP_011535372.1:p.Lys587Ile
XM_011537071.2:c.1814A>T	XP_011535373.2:p.Lys605Ile
XM_011537072.2:c.1706A>T	XP_011535374.1:p.Lys569Ile
XM_017021582.1:c.1964A>T	XP_016877071.1:p.Lys655Ile
XM_017021583.1:c.1955A>T	XP_016877072.1:p.Lys652Ile
XM_017021584.1:c.1874A>T	XP_016877073.1:p.Lys625Ile
XM_017021585.1:c.1823A>T	XP_016877074.1:p.Lys608Ile
XM_017021586.1:c.1499A>T	XP_016877075.1:p.Lys500Ile
XM_017021587.1:c.1499A>T	XP_016877076.1:p.Lys500Ile
XM_017021588.1:c.1499A>T	XP_016877077.1:p.Lys500Ile
NM_001164749.2:c.1805A>T MANE Select	NP_001158221.1:p.Lys602Ile
NM_001165893.2:c.1715A>T	NP_001159365.1:p.Lys572Ile
NM_022123.3:c.1709A>T	NP_071406.1:p.Lys570Ile
NM_173159.3:c.1766A>T	NP_775182.1:p.Lys589Ile
NM_001394988.1:c.1760A>T	NP_001381917.1:p.Lys587Ile
NM_001394989.1:c.1706A>T	NP_001381918.1:p.Lys569Ile