Canonical Allele Identifier: CA389413239

Gene: NPAS3

Linked Data

• COSMIC: COSM3495778 ; COSM3495779 ; COSM3495780
• MyVariant Identifiers: chr14:g.34269466G>C (hg19) ; chr14:g.33800260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800260G>C , CM000676.2:g.33800260G>C	GRCh38
NC_000014.8:g.34269466G>C , CM000676.1:g.34269466G>C	GRCh37
NC_000014.7:g.33339217G>C	NCBI36
NG_013036.1:g.866008G>C
NG_013036.2:g.866008G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1953G>C MANE Select	ENSP00000348460.4:p.Glu651Asp
ENST00000551634.6:c.1962G>C	ENSP00000448373.2:p.Glu654Asp
ENST00000680362.1:c.1853G>C
ENST00000681323.1:c.793+2679G>C
ENST00000346562.6:c.1857G>C	ENSP00000319610.5:p.Glu619Asp
ENST00000356141.8:c.1953G>C	ENSP00000348460.4:p.Glu651Asp
ENST00000357798.9:c.1914G>C	ENSP00000350446.5:p.Glu638Asp
ENST00000548645.5:c.1863G>C	ENSP00000448916.1:p.Glu621Asp
ENST00000551492.5:c.1968G>C	ENSP00000450392.1:p.Glu656Asp
ENST00000551634.5:c.1875G>C	ENSP00000448373.1:p.Glu625Asp
NM_001164749.1:c.1953G>C	NP_001158221.1:p.Glu651Asp
NM_001165893.1:c.1863G>C	NP_001159365.1:p.Glu621Asp
NM_022123.2:c.1857G>C	NP_071406.1:p.Glu619Asp
NM_173159.2:c.1914G>C	NP_775182.1:p.Glu638Asp
XM_005267991.2:c.1974G>C	XP_005268048.1:p.Glu658Asp
XM_005267992.2:c.1968G>C	XP_005268049.1:p.Glu656Asp
XM_005267993.2:c.1914G>C	XP_005268050.1:p.Glu638Asp
XM_011537067.1:c.2004G>C	XP_011535369.1:p.Glu668Asp
XM_011537068.1:c.1995G>C	XP_011535370.1:p.Glu665Asp
XM_011537069.1:c.1965G>C	XP_011535371.1:p.Glu655Asp
XM_011537070.1:c.1908G>C	XP_011535372.1:p.Glu636Asp
XM_011537071.1:c.1875G>C	XP_011535373.1:p.Glu625Asp
XM_011537072.1:c.1854G>C	XP_011535374.1:p.Glu618Asp
XM_011537073.1:c.1647G>C	XP_011535375.1:p.Glu549Asp
XM_011537074.1:c.1647G>C	XP_011535376.1:p.Glu549Asp
XM_005267991.3:c.2061G>C	XP_005268048.2:p.Glu687Asp
XM_005267992.3:c.2055G>C	XP_005268049.2:p.Glu685Asp
XM_011537067.2:c.2004G>C	XP_011535369.1:p.Glu668Asp
XM_011537069.2:c.2052G>C	XP_011535371.2:p.Glu684Asp
XM_011537070.2:c.1908G>C	XP_011535372.1:p.Glu636Asp
XM_011537071.2:c.1962G>C	XP_011535373.2:p.Glu654Asp
XM_011537072.2:c.1854G>C	XP_011535374.1:p.Glu618Asp
XM_017021582.1:c.2112G>C	XP_016877071.1:p.Glu704Asp
XM_017021583.1:c.2103G>C	XP_016877072.1:p.Glu701Asp
XM_017021584.1:c.2022G>C	XP_016877073.1:p.Glu674Asp
XM_017021585.1:c.1971G>C	XP_016877074.1:p.Glu657Asp
XM_017021586.1:c.1647G>C	XP_016877075.1:p.Glu549Asp
XM_017021587.1:c.1647G>C	XP_016877076.1:p.Glu549Asp
XM_017021588.1:c.1647G>C	XP_016877077.1:p.Glu549Asp
NM_001164749.2:c.1953G>C MANE Select	NP_001158221.1:p.Glu651Asp
NM_001165893.2:c.1863G>C	NP_001159365.1:p.Glu621Asp
NM_022123.3:c.1857G>C	NP_071406.1:p.Glu619Asp
NM_173159.3:c.1914G>C	NP_775182.1:p.Glu638Asp
NM_001394988.1:c.1908G>C	NP_001381917.1:p.Glu636Asp
NM_001394989.1:c.1854G>C	NP_001381918.1:p.Glu618Asp