Canonical Allele Identifier: CA389413985

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269633T>C (hg19) ; chr14:g.33800427T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800427T>C , CM000676.2:g.33800427T>C	GRCh38
NC_000014.8:g.34269633T>C , CM000676.1:g.34269633T>C	GRCh37
NC_000014.7:g.33339384T>C	NCBI36
NG_013036.1:g.866175T>C
NG_013036.2:g.866175T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2120T>C MANE Select	ENSP00000348460.4:p.Leu707Pro
ENST00000551634.6:c.2129T>C	ENSP00000448373.2:p.Leu710Pro
ENST00000680362.1:c.2020T>C
ENST00000681323.1:c.793+2846T>C
ENST00000346562.6:c.2024T>C	ENSP00000319610.5:p.Leu675Pro
ENST00000356141.8:c.2120T>C	ENSP00000348460.4:p.Leu707Pro
ENST00000357798.9:c.2081T>C	ENSP00000350446.5:p.Leu694Pro
ENST00000548645.5:c.2030T>C	ENSP00000448916.1:p.Leu677Pro
ENST00000551492.5:c.2135T>C	ENSP00000450392.1:p.Leu712Pro
ENST00000551634.5:c.2042T>C	ENSP00000448373.1:p.Leu681Pro
NM_001164749.1:c.2120T>C	NP_001158221.1:p.Leu707Pro
NM_001165893.1:c.2030T>C	NP_001159365.1:p.Leu677Pro
NM_022123.2:c.2024T>C	NP_071406.1:p.Leu675Pro
NM_173159.2:c.2081T>C	NP_775182.1:p.Leu694Pro
XM_005267991.2:c.2141T>C	XP_005268048.1:p.Leu714Pro
XM_005267992.2:c.2135T>C	XP_005268049.1:p.Leu712Pro
XM_005267993.2:c.2081T>C	XP_005268050.1:p.Leu694Pro
XM_011537067.1:c.2171T>C	XP_011535369.1:p.Leu724Pro
XM_011537068.1:c.2162T>C	XP_011535370.1:p.Leu721Pro
XM_011537069.1:c.2132T>C	XP_011535371.1:p.Leu711Pro
XM_011537070.1:c.2075T>C	XP_011535372.1:p.Leu692Pro
XM_011537071.1:c.2042T>C	XP_011535373.1:p.Leu681Pro
XM_011537072.1:c.2021T>C	XP_011535374.1:p.Leu674Pro
XM_011537073.1:c.1814T>C	XP_011535375.1:p.Leu605Pro
XM_011537074.1:c.1814T>C	XP_011535376.1:p.Leu605Pro
XM_005267991.3:c.2228T>C	XP_005268048.2:p.Leu743Pro
XM_005267992.3:c.2222T>C	XP_005268049.2:p.Leu741Pro
XM_011537067.2:c.2171T>C	XP_011535369.1:p.Leu724Pro
XM_011537069.2:c.2219T>C	XP_011535371.2:p.Leu740Pro
XM_011537070.2:c.2075T>C	XP_011535372.1:p.Leu692Pro
XM_011537071.2:c.2129T>C	XP_011535373.2:p.Leu710Pro
XM_011537072.2:c.2021T>C	XP_011535374.1:p.Leu674Pro
XM_017021582.1:c.2279T>C	XP_016877071.1:p.Leu760Pro
XM_017021583.1:c.2270T>C	XP_016877072.1:p.Leu757Pro
XM_017021584.1:c.2189T>C	XP_016877073.1:p.Leu730Pro
XM_017021585.1:c.2138T>C	XP_016877074.1:p.Leu713Pro
XM_017021586.1:c.1814T>C	XP_016877075.1:p.Leu605Pro
XM_017021587.1:c.1814T>C	XP_016877076.1:p.Leu605Pro
XM_017021588.1:c.1814T>C	XP_016877077.1:p.Leu605Pro
NM_001164749.2:c.2120T>C MANE Select	NP_001158221.1:p.Leu707Pro
NM_001165893.2:c.2030T>C	NP_001159365.1:p.Leu677Pro
NM_022123.3:c.2024T>C	NP_071406.1:p.Leu675Pro
NM_173159.3:c.2081T>C	NP_775182.1:p.Leu694Pro
NM_001394988.1:c.2075T>C	NP_001381917.1:p.Leu692Pro
NM_001394989.1:c.2021T>C	NP_001381918.1:p.Leu674Pro