Canonical Allele Identifier: CA389412174

Gene: NPAS3

Linked Data

• dbSNP Id: rs1203934496
• gnomAD v2: 14-34269261-C-T
• gnomAD v4: 14-33800055-C-T
• COSMIC: COSM4050592 ; COSM4050593 ; COSM4050594
• MyVariant Identifiers: chr14:g.34269261C>T (hg19) ; chr14:g.33800055C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800055C>T , CM000676.2:g.33800055C>T	GRCh38
NC_000014.8:g.34269261C>T , CM000676.1:g.34269261C>T	GRCh37
NC_000014.7:g.33339012C>T	NCBI36
NG_013036.1:g.865803C>T
NG_013036.2:g.865803C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1748C>T MANE Select	ENSP00000348460.4:p.Ser583Leu
ENST00000551634.6:c.1757C>T	ENSP00000448373.2:p.Ser586Leu
ENST00000680362.1:c.1648C>T
ENST00000681323.1:c.793+2474C>T
ENST00000346562.6:c.1652C>T	ENSP00000319610.5:p.Ser551Leu
ENST00000356141.8:c.1748C>T	ENSP00000348460.4:p.Ser583Leu
ENST00000357798.9:c.1709C>T	ENSP00000350446.5:p.Ser570Leu
ENST00000548645.5:c.1658C>T	ENSP00000448916.1:p.Ser553Leu
ENST00000551492.5:c.1763C>T	ENSP00000450392.1:p.Ser588Leu
ENST00000551634.5:c.1670C>T	ENSP00000448373.1:p.Ser557Leu
NM_001164749.1:c.1748C>T	NP_001158221.1:p.Ser583Leu
NM_001165893.1:c.1658C>T	NP_001159365.1:p.Ser553Leu
NM_022123.2:c.1652C>T	NP_071406.1:p.Ser551Leu
NM_173159.2:c.1709C>T	NP_775182.1:p.Ser570Leu
XM_005267991.2:c.1769C>T	XP_005268048.1:p.Ser590Leu
XM_005267992.2:c.1763C>T	XP_005268049.1:p.Ser588Leu
XM_005267993.2:c.1709C>T	XP_005268050.1:p.Ser570Leu
XM_011537067.1:c.1799C>T	XP_011535369.1:p.Ser600Leu
XM_011537068.1:c.1790C>T	XP_011535370.1:p.Ser597Leu
XM_011537069.1:c.1760C>T	XP_011535371.1:p.Ser587Leu
XM_011537070.1:c.1703C>T	XP_011535372.1:p.Ser568Leu
XM_011537071.1:c.1670C>T	XP_011535373.1:p.Ser557Leu
XM_011537072.1:c.1649C>T	XP_011535374.1:p.Ser550Leu
XM_011537073.1:c.1442C>T	XP_011535375.1:p.Ser481Leu
XM_011537074.1:c.1442C>T	XP_011535376.1:p.Ser481Leu
XM_005267991.3:c.1856C>T	XP_005268048.2:p.Ser619Leu
XM_005267992.3:c.1850C>T	XP_005268049.2:p.Ser617Leu
XM_011537067.2:c.1799C>T	XP_011535369.1:p.Ser600Leu
XM_011537069.2:c.1847C>T	XP_011535371.2:p.Ser616Leu
XM_011537070.2:c.1703C>T	XP_011535372.1:p.Ser568Leu
XM_011537071.2:c.1757C>T	XP_011535373.2:p.Ser586Leu
XM_011537072.2:c.1649C>T	XP_011535374.1:p.Ser550Leu
XM_017021582.1:c.1907C>T	XP_016877071.1:p.Ser636Leu
XM_017021583.1:c.1898C>T	XP_016877072.1:p.Ser633Leu
XM_017021584.1:c.1817C>T	XP_016877073.1:p.Ser606Leu
XM_017021585.1:c.1766C>T	XP_016877074.1:p.Ser589Leu
XM_017021586.1:c.1442C>T	XP_016877075.1:p.Ser481Leu
XM_017021587.1:c.1442C>T	XP_016877076.1:p.Ser481Leu
XM_017021588.1:c.1442C>T	XP_016877077.1:p.Ser481Leu
NM_001164749.2:c.1748C>T MANE Select	NP_001158221.1:p.Ser583Leu
NM_001165893.2:c.1658C>T	NP_001159365.1:p.Ser553Leu
NM_022123.3:c.1652C>T	NP_071406.1:p.Ser551Leu
NM_173159.3:c.1709C>T	NP_775182.1:p.Ser570Leu
NM_001394988.1:c.1703C>T	NP_001381917.1:p.Ser568Leu
NM_001394989.1:c.1649C>T	NP_001381918.1:p.Ser550Leu