Canonical Allele Identifier: CA389413204

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269456T>C (hg19) ; chr14:g.33800250T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800250T>C , CM000676.2:g.33800250T>C	GRCh38
NC_000014.8:g.34269456T>C , CM000676.1:g.34269456T>C	GRCh37
NC_000014.7:g.33339207T>C	NCBI36
NG_013036.1:g.865998T>C
NG_013036.2:g.865998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1943T>C MANE Select	ENSP00000348460.4:p.Ile648Thr
ENST00000551634.6:c.1952T>C	ENSP00000448373.2:p.Ile651Thr
ENST00000680362.1:c.1843T>C
ENST00000681323.1:c.793+2669T>C
ENST00000346562.6:c.1847T>C	ENSP00000319610.5:p.Ile616Thr
ENST00000356141.8:c.1943T>C	ENSP00000348460.4:p.Ile648Thr
ENST00000357798.9:c.1904T>C	ENSP00000350446.5:p.Ile635Thr
ENST00000548645.5:c.1853T>C	ENSP00000448916.1:p.Ile618Thr
ENST00000551492.5:c.1958T>C	ENSP00000450392.1:p.Ile653Thr
ENST00000551634.5:c.1865T>C	ENSP00000448373.1:p.Ile622Thr
NM_001164749.1:c.1943T>C	NP_001158221.1:p.Ile648Thr
NM_001165893.1:c.1853T>C	NP_001159365.1:p.Ile618Thr
NM_022123.2:c.1847T>C	NP_071406.1:p.Ile616Thr
NM_173159.2:c.1904T>C	NP_775182.1:p.Ile635Thr
XM_005267991.2:c.1964T>C	XP_005268048.1:p.Ile655Thr
XM_005267992.2:c.1958T>C	XP_005268049.1:p.Ile653Thr
XM_005267993.2:c.1904T>C	XP_005268050.1:p.Ile635Thr
XM_011537067.1:c.1994T>C	XP_011535369.1:p.Ile665Thr
XM_011537068.1:c.1985T>C	XP_011535370.1:p.Ile662Thr
XM_011537069.1:c.1955T>C	XP_011535371.1:p.Ile652Thr
XM_011537070.1:c.1898T>C	XP_011535372.1:p.Ile633Thr
XM_011537071.1:c.1865T>C	XP_011535373.1:p.Ile622Thr
XM_011537072.1:c.1844T>C	XP_011535374.1:p.Ile615Thr
XM_011537073.1:c.1637T>C	XP_011535375.1:p.Ile546Thr
XM_011537074.1:c.1637T>C	XP_011535376.1:p.Ile546Thr
XM_005267991.3:c.2051T>C	XP_005268048.2:p.Ile684Thr
XM_005267992.3:c.2045T>C	XP_005268049.2:p.Ile682Thr
XM_011537067.2:c.1994T>C	XP_011535369.1:p.Ile665Thr
XM_011537069.2:c.2042T>C	XP_011535371.2:p.Ile681Thr
XM_011537070.2:c.1898T>C	XP_011535372.1:p.Ile633Thr
XM_011537071.2:c.1952T>C	XP_011535373.2:p.Ile651Thr
XM_011537072.2:c.1844T>C	XP_011535374.1:p.Ile615Thr
XM_017021582.1:c.2102T>C	XP_016877071.1:p.Ile701Thr
XM_017021583.1:c.2093T>C	XP_016877072.1:p.Ile698Thr
XM_017021584.1:c.2012T>C	XP_016877073.1:p.Ile671Thr
XM_017021585.1:c.1961T>C	XP_016877074.1:p.Ile654Thr
XM_017021586.1:c.1637T>C	XP_016877075.1:p.Ile546Thr
XM_017021587.1:c.1637T>C	XP_016877076.1:p.Ile546Thr
XM_017021588.1:c.1637T>C	XP_016877077.1:p.Ile546Thr
NM_001164749.2:c.1943T>C MANE Select	NP_001158221.1:p.Ile648Thr
NM_001165893.2:c.1853T>C	NP_001159365.1:p.Ile618Thr
NM_022123.3:c.1847T>C	NP_071406.1:p.Ile616Thr
NM_173159.3:c.1904T>C	NP_775182.1:p.Ile635Thr
NM_001394988.1:c.1898T>C	NP_001381917.1:p.Ile633Thr
NM_001394989.1:c.1844T>C	NP_001381918.1:p.Ile615Thr