Canonical Allele Identifier: CA389412328

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269287C>T (hg19) ; chr14:g.33800081C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800081C>T , CM000676.2:g.33800081C>T	GRCh38
NC_000014.8:g.34269287C>T , CM000676.1:g.34269287C>T	GRCh37
NC_000014.7:g.33339038C>T	NCBI36
NG_013036.1:g.865829C>T
NG_013036.2:g.865829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1774C>T MANE Select	ENSP00000348460.4:p.Gln592Ter
ENST00000551634.6:c.1783C>T	ENSP00000448373.2:p.Gln595Ter
ENST00000680362.1:c.1674C>T
ENST00000681323.1:c.793+2500C>T
ENST00000346562.6:c.1678C>T	ENSP00000319610.5:p.Gln560Ter
ENST00000356141.8:c.1774C>T	ENSP00000348460.4:p.Gln592Ter
ENST00000357798.9:c.1735C>T	ENSP00000350446.5:p.Gln579Ter
ENST00000548645.5:c.1684C>T	ENSP00000448916.1:p.Gln562Ter
ENST00000551492.5:c.1789C>T	ENSP00000450392.1:p.Gln597Ter
ENST00000551634.5:c.1696C>T	ENSP00000448373.1:p.Gln566Ter
NM_001164749.1:c.1774C>T	NP_001158221.1:p.Gln592Ter
NM_001165893.1:c.1684C>T	NP_001159365.1:p.Gln562Ter
NM_022123.2:c.1678C>T	NP_071406.1:p.Gln560Ter
NM_173159.2:c.1735C>T	NP_775182.1:p.Gln579Ter
XM_005267991.2:c.1795C>T	XP_005268048.1:p.Gln599Ter
XM_005267992.2:c.1789C>T	XP_005268049.1:p.Gln597Ter
XM_005267993.2:c.1735C>T	XP_005268050.1:p.Gln579Ter
XM_011537067.1:c.1825C>T	XP_011535369.1:p.Gln609Ter
XM_011537068.1:c.1816C>T	XP_011535370.1:p.Gln606Ter
XM_011537069.1:c.1786C>T	XP_011535371.1:p.Gln596Ter
XM_011537070.1:c.1729C>T	XP_011535372.1:p.Gln577Ter
XM_011537071.1:c.1696C>T	XP_011535373.1:p.Gln566Ter
XM_011537072.1:c.1675C>T	XP_011535374.1:p.Gln559Ter
XM_011537073.1:c.1468C>T	XP_011535375.1:p.Gln490Ter
XM_011537074.1:c.1468C>T	XP_011535376.1:p.Gln490Ter
XM_005267991.3:c.1882C>T	XP_005268048.2:p.Gln628Ter
XM_005267992.3:c.1876C>T	XP_005268049.2:p.Gln626Ter
XM_011537067.2:c.1825C>T	XP_011535369.1:p.Gln609Ter
XM_011537069.2:c.1873C>T	XP_011535371.2:p.Gln625Ter
XM_011537070.2:c.1729C>T	XP_011535372.1:p.Gln577Ter
XM_011537071.2:c.1783C>T	XP_011535373.2:p.Gln595Ter
XM_011537072.2:c.1675C>T	XP_011535374.1:p.Gln559Ter
XM_017021582.1:c.1933C>T	XP_016877071.1:p.Gln645Ter
XM_017021583.1:c.1924C>T	XP_016877072.1:p.Gln642Ter
XM_017021584.1:c.1843C>T	XP_016877073.1:p.Gln615Ter
XM_017021585.1:c.1792C>T	XP_016877074.1:p.Gln598Ter
XM_017021586.1:c.1468C>T	XP_016877075.1:p.Gln490Ter
XM_017021587.1:c.1468C>T	XP_016877076.1:p.Gln490Ter
XM_017021588.1:c.1468C>T	XP_016877077.1:p.Gln490Ter
NM_001164749.2:c.1774C>T MANE Select	NP_001158221.1:p.Gln592Ter
NM_001165893.2:c.1684C>T	NP_001159365.1:p.Gln562Ter
NM_022123.3:c.1678C>T	NP_071406.1:p.Gln560Ter
NM_173159.3:c.1735C>T	NP_775182.1:p.Gln579Ter
NM_001394988.1:c.1729C>T	NP_001381917.1:p.Gln577Ter
NM_001394989.1:c.1675C>T	NP_001381918.1:p.Gln559Ter