Canonical Allele Identifier: CA389413982

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269632C>G (hg19) ; chr14:g.33800426C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800426C>G , CM000676.2:g.33800426C>G	GRCh38
NC_000014.8:g.34269632C>G , CM000676.1:g.34269632C>G	GRCh37
NC_000014.7:g.33339383C>G	NCBI36
NG_013036.1:g.866174C>G
NG_013036.2:g.866174C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2119C>G MANE Select	ENSP00000348460.4:p.Leu707Val
ENST00000551634.6:c.2128C>G	ENSP00000448373.2:p.Leu710Val
ENST00000680362.1:c.2019C>G
ENST00000681323.1:c.793+2845C>G
ENST00000346562.6:c.2023C>G	ENSP00000319610.5:p.Leu675Val
ENST00000356141.8:c.2119C>G	ENSP00000348460.4:p.Leu707Val
ENST00000357798.9:c.2080C>G	ENSP00000350446.5:p.Leu694Val
ENST00000548645.5:c.2029C>G	ENSP00000448916.1:p.Leu677Val
ENST00000551492.5:c.2134C>G	ENSP00000450392.1:p.Leu712Val
ENST00000551634.5:c.2041C>G	ENSP00000448373.1:p.Leu681Val
NM_001164749.1:c.2119C>G	NP_001158221.1:p.Leu707Val
NM_001165893.1:c.2029C>G	NP_001159365.1:p.Leu677Val
NM_022123.2:c.2023C>G	NP_071406.1:p.Leu675Val
NM_173159.2:c.2080C>G	NP_775182.1:p.Leu694Val
XM_005267991.2:c.2140C>G	XP_005268048.1:p.Leu714Val
XM_005267992.2:c.2134C>G	XP_005268049.1:p.Leu712Val
XM_005267993.2:c.2080C>G	XP_005268050.1:p.Leu694Val
XM_011537067.1:c.2170C>G	XP_011535369.1:p.Leu724Val
XM_011537068.1:c.2161C>G	XP_011535370.1:p.Leu721Val
XM_011537069.1:c.2131C>G	XP_011535371.1:p.Leu711Val
XM_011537070.1:c.2074C>G	XP_011535372.1:p.Leu692Val
XM_011537071.1:c.2041C>G	XP_011535373.1:p.Leu681Val
XM_011537072.1:c.2020C>G	XP_011535374.1:p.Leu674Val
XM_011537073.1:c.1813C>G	XP_011535375.1:p.Leu605Val
XM_011537074.1:c.1813C>G	XP_011535376.1:p.Leu605Val
XM_005267991.3:c.2227C>G	XP_005268048.2:p.Leu743Val
XM_005267992.3:c.2221C>G	XP_005268049.2:p.Leu741Val
XM_011537067.2:c.2170C>G	XP_011535369.1:p.Leu724Val
XM_011537069.2:c.2218C>G	XP_011535371.2:p.Leu740Val
XM_011537070.2:c.2074C>G	XP_011535372.1:p.Leu692Val
XM_011537071.2:c.2128C>G	XP_011535373.2:p.Leu710Val
XM_011537072.2:c.2020C>G	XP_011535374.1:p.Leu674Val
XM_017021582.1:c.2278C>G	XP_016877071.1:p.Leu760Val
XM_017021583.1:c.2269C>G	XP_016877072.1:p.Leu757Val
XM_017021584.1:c.2188C>G	XP_016877073.1:p.Leu730Val
XM_017021585.1:c.2137C>G	XP_016877074.1:p.Leu713Val
XM_017021586.1:c.1813C>G	XP_016877075.1:p.Leu605Val
XM_017021587.1:c.1813C>G	XP_016877076.1:p.Leu605Val
XM_017021588.1:c.1813C>G	XP_016877077.1:p.Leu605Val
NM_001164749.2:c.2119C>G MANE Select	NP_001158221.1:p.Leu707Val
NM_001165893.2:c.2029C>G	NP_001159365.1:p.Leu677Val
NM_022123.3:c.2023C>G	NP_071406.1:p.Leu675Val
NM_173159.3:c.2080C>G	NP_775182.1:p.Leu694Val
NM_001394988.1:c.2074C>G	NP_001381917.1:p.Leu692Val
NM_001394989.1:c.2020C>G	NP_001381918.1:p.Leu674Val