Canonical Allele Identifier: CA389413487

Gene: NPAS3

Linked Data

• COSMIC: COSM3732240 ; COSM3732241 ; COSM3732242
• MyVariant Identifiers: chr14:g.34269518C>T (hg19) ; chr14:g.33800312C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800312C>T , CM000676.2:g.33800312C>T	GRCh38
NC_000014.8:g.34269518C>T , CM000676.1:g.34269518C>T	GRCh37
NC_000014.7:g.33339269C>T	NCBI36
NG_013036.1:g.866060C>T
NG_013036.2:g.866060C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2005C>T MANE Select	ENSP00000348460.4:p.Pro669Ser
ENST00000551634.6:c.2014C>T	ENSP00000448373.2:p.Pro672Ser
ENST00000680362.1:c.1905C>T
ENST00000681323.1:c.793+2731C>T
ENST00000346562.6:c.1909C>T	ENSP00000319610.5:p.Pro637Ser
ENST00000356141.8:c.2005C>T	ENSP00000348460.4:p.Pro669Ser
ENST00000357798.9:c.1966C>T	ENSP00000350446.5:p.Pro656Ser
ENST00000548645.5:c.1915C>T	ENSP00000448916.1:p.Pro639Ser
ENST00000551492.5:c.2020C>T	ENSP00000450392.1:p.Pro674Ser
ENST00000551634.5:c.1927C>T	ENSP00000448373.1:p.Pro643Ser
NM_001164749.1:c.2005C>T	NP_001158221.1:p.Pro669Ser
NM_001165893.1:c.1915C>T	NP_001159365.1:p.Pro639Ser
NM_022123.2:c.1909C>T	NP_071406.1:p.Pro637Ser
NM_173159.2:c.1966C>T	NP_775182.1:p.Pro656Ser
XM_005267991.2:c.2026C>T	XP_005268048.1:p.Pro676Ser
XM_005267992.2:c.2020C>T	XP_005268049.1:p.Pro674Ser
XM_005267993.2:c.1966C>T	XP_005268050.1:p.Pro656Ser
XM_011537067.1:c.2056C>T	XP_011535369.1:p.Pro686Ser
XM_011537068.1:c.2047C>T	XP_011535370.1:p.Pro683Ser
XM_011537069.1:c.2017C>T	XP_011535371.1:p.Pro673Ser
XM_011537070.1:c.1960C>T	XP_011535372.1:p.Pro654Ser
XM_011537071.1:c.1927C>T	XP_011535373.1:p.Pro643Ser
XM_011537072.1:c.1906C>T	XP_011535374.1:p.Pro636Ser
XM_011537073.1:c.1699C>T	XP_011535375.1:p.Pro567Ser
XM_011537074.1:c.1699C>T	XP_011535376.1:p.Pro567Ser
XM_005267991.3:c.2113C>T	XP_005268048.2:p.Pro705Ser
XM_005267992.3:c.2107C>T	XP_005268049.2:p.Pro703Ser
XM_011537067.2:c.2056C>T	XP_011535369.1:p.Pro686Ser
XM_011537069.2:c.2104C>T	XP_011535371.2:p.Pro702Ser
XM_011537070.2:c.1960C>T	XP_011535372.1:p.Pro654Ser
XM_011537071.2:c.2014C>T	XP_011535373.2:p.Pro672Ser
XM_011537072.2:c.1906C>T	XP_011535374.1:p.Pro636Ser
XM_017021582.1:c.2164C>T	XP_016877071.1:p.Pro722Ser
XM_017021583.1:c.2155C>T	XP_016877072.1:p.Pro719Ser
XM_017021584.1:c.2074C>T	XP_016877073.1:p.Pro692Ser
XM_017021585.1:c.2023C>T	XP_016877074.1:p.Pro675Ser
XM_017021586.1:c.1699C>T	XP_016877075.1:p.Pro567Ser
XM_017021587.1:c.1699C>T	XP_016877076.1:p.Pro567Ser
XM_017021588.1:c.1699C>T	XP_016877077.1:p.Pro567Ser
NM_001164749.2:c.2005C>T MANE Select	NP_001158221.1:p.Pro669Ser
NM_001165893.2:c.1915C>T	NP_001159365.1:p.Pro639Ser
NM_022123.3:c.1909C>T	NP_071406.1:p.Pro637Ser
NM_173159.3:c.1966C>T	NP_775182.1:p.Pro656Ser
NM_001394988.1:c.1960C>T	NP_001381917.1:p.Pro654Ser
NM_001394989.1:c.1906C>T	NP_001381918.1:p.Pro636Ser