Canonical Allele Identifier: CA389413053

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800214-T-C
• MyVariant Identifiers: chr14:g.34269420T>C (hg19) ; chr14:g.33800214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800214T>C , CM000676.2:g.33800214T>C	GRCh38
NC_000014.8:g.34269420T>C , CM000676.1:g.34269420T>C	GRCh37
NC_000014.7:g.33339171T>C	NCBI36
NG_013036.1:g.865962T>C
NG_013036.2:g.865962T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1907T>C MANE Select	ENSP00000348460.4:p.Leu636Pro
ENST00000551634.6:c.1916T>C	ENSP00000448373.2:p.Leu639Pro
ENST00000680362.1:c.1807T>C
ENST00000681323.1:c.793+2633T>C
ENST00000346562.6:c.1811T>C	ENSP00000319610.5:p.Leu604Pro
ENST00000356141.8:c.1907T>C	ENSP00000348460.4:p.Leu636Pro
ENST00000357798.9:c.1868T>C	ENSP00000350446.5:p.Leu623Pro
ENST00000548645.5:c.1817T>C	ENSP00000448916.1:p.Leu606Pro
ENST00000551492.5:c.1922T>C	ENSP00000450392.1:p.Leu641Pro
ENST00000551634.5:c.1829T>C	ENSP00000448373.1:p.Leu610Pro
NM_001164749.1:c.1907T>C	NP_001158221.1:p.Leu636Pro
NM_001165893.1:c.1817T>C	NP_001159365.1:p.Leu606Pro
NM_022123.2:c.1811T>C	NP_071406.1:p.Leu604Pro
NM_173159.2:c.1868T>C	NP_775182.1:p.Leu623Pro
XM_005267991.2:c.1928T>C	XP_005268048.1:p.Leu643Pro
XM_005267992.2:c.1922T>C	XP_005268049.1:p.Leu641Pro
XM_005267993.2:c.1868T>C	XP_005268050.1:p.Leu623Pro
XM_011537067.1:c.1958T>C	XP_011535369.1:p.Leu653Pro
XM_011537068.1:c.1949T>C	XP_011535370.1:p.Leu650Pro
XM_011537069.1:c.1919T>C	XP_011535371.1:p.Leu640Pro
XM_011537070.1:c.1862T>C	XP_011535372.1:p.Leu621Pro
XM_011537071.1:c.1829T>C	XP_011535373.1:p.Leu610Pro
XM_011537072.1:c.1808T>C	XP_011535374.1:p.Leu603Pro
XM_011537073.1:c.1601T>C	XP_011535375.1:p.Leu534Pro
XM_011537074.1:c.1601T>C	XP_011535376.1:p.Leu534Pro
XM_005267991.3:c.2015T>C	XP_005268048.2:p.Leu672Pro
XM_005267992.3:c.2009T>C	XP_005268049.2:p.Leu670Pro
XM_011537067.2:c.1958T>C	XP_011535369.1:p.Leu653Pro
XM_011537069.2:c.2006T>C	XP_011535371.2:p.Leu669Pro
XM_011537070.2:c.1862T>C	XP_011535372.1:p.Leu621Pro
XM_011537071.2:c.1916T>C	XP_011535373.2:p.Leu639Pro
XM_011537072.2:c.1808T>C	XP_011535374.1:p.Leu603Pro
XM_017021582.1:c.2066T>C	XP_016877071.1:p.Leu689Pro
XM_017021583.1:c.2057T>C	XP_016877072.1:p.Leu686Pro
XM_017021584.1:c.1976T>C	XP_016877073.1:p.Leu659Pro
XM_017021585.1:c.1925T>C	XP_016877074.1:p.Leu642Pro
XM_017021586.1:c.1601T>C	XP_016877075.1:p.Leu534Pro
XM_017021587.1:c.1601T>C	XP_016877076.1:p.Leu534Pro
XM_017021588.1:c.1601T>C	XP_016877077.1:p.Leu534Pro
NM_001164749.2:c.1907T>C MANE Select	NP_001158221.1:p.Leu636Pro
NM_001165893.2:c.1817T>C	NP_001159365.1:p.Leu606Pro
NM_022123.3:c.1811T>C	NP_071406.1:p.Leu604Pro
NM_173159.3:c.1868T>C	NP_775182.1:p.Leu623Pro
NM_001394988.1:c.1862T>C	NP_001381917.1:p.Leu621Pro
NM_001394989.1:c.1808T>C	NP_001381918.1:p.Leu603Pro