Canonical Allele Identifier: CA389412989

Gene: NPAS3

Linked Data

• COSMIC: COSM6030194 ; COSM6030195 ; COSM6030196
• MyVariant Identifiers: chr14:g.34269404G>C (hg19) ; chr14:g.33800198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800198G>C , CM000676.2:g.33800198G>C	GRCh38
NC_000014.8:g.34269404G>C , CM000676.1:g.34269404G>C	GRCh37
NC_000014.7:g.33339155G>C	NCBI36
NG_013036.1:g.865946G>C
NG_013036.2:g.865946G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1891G>C MANE Select	ENSP00000348460.4:p.Val631Leu
ENST00000551634.6:c.1900G>C	ENSP00000448373.2:p.Val634Leu
ENST00000680362.1:c.1791G>C
ENST00000681323.1:c.793+2617G>C
ENST00000346562.6:c.1795G>C	ENSP00000319610.5:p.Val599Leu
ENST00000356141.8:c.1891G>C	ENSP00000348460.4:p.Val631Leu
ENST00000357798.9:c.1852G>C	ENSP00000350446.5:p.Val618Leu
ENST00000548645.5:c.1801G>C	ENSP00000448916.1:p.Val601Leu
ENST00000551492.5:c.1906G>C	ENSP00000450392.1:p.Val636Leu
ENST00000551634.5:c.1813G>C	ENSP00000448373.1:p.Val605Leu
NM_001164749.1:c.1891G>C	NP_001158221.1:p.Val631Leu
NM_001165893.1:c.1801G>C	NP_001159365.1:p.Val601Leu
NM_022123.2:c.1795G>C	NP_071406.1:p.Val599Leu
NM_173159.2:c.1852G>C	NP_775182.1:p.Val618Leu
XM_005267991.2:c.1912G>C	XP_005268048.1:p.Val638Leu
XM_005267992.2:c.1906G>C	XP_005268049.1:p.Val636Leu
XM_005267993.2:c.1852G>C	XP_005268050.1:p.Val618Leu
XM_011537067.1:c.1942G>C	XP_011535369.1:p.Val648Leu
XM_011537068.1:c.1933G>C	XP_011535370.1:p.Val645Leu
XM_011537069.1:c.1903G>C	XP_011535371.1:p.Val635Leu
XM_011537070.1:c.1846G>C	XP_011535372.1:p.Val616Leu
XM_011537071.1:c.1813G>C	XP_011535373.1:p.Val605Leu
XM_011537072.1:c.1792G>C	XP_011535374.1:p.Val598Leu
XM_011537073.1:c.1585G>C	XP_011535375.1:p.Val529Leu
XM_011537074.1:c.1585G>C	XP_011535376.1:p.Val529Leu
XM_005267991.3:c.1999G>C	XP_005268048.2:p.Val667Leu
XM_005267992.3:c.1993G>C	XP_005268049.2:p.Val665Leu
XM_011537067.2:c.1942G>C	XP_011535369.1:p.Val648Leu
XM_011537069.2:c.1990G>C	XP_011535371.2:p.Val664Leu
XM_011537070.2:c.1846G>C	XP_011535372.1:p.Val616Leu
XM_011537071.2:c.1900G>C	XP_011535373.2:p.Val634Leu
XM_011537072.2:c.1792G>C	XP_011535374.1:p.Val598Leu
XM_017021582.1:c.2050G>C	XP_016877071.1:p.Val684Leu
XM_017021583.1:c.2041G>C	XP_016877072.1:p.Val681Leu
XM_017021584.1:c.1960G>C	XP_016877073.1:p.Val654Leu
XM_017021585.1:c.1909G>C	XP_016877074.1:p.Val637Leu
XM_017021586.1:c.1585G>C	XP_016877075.1:p.Val529Leu
XM_017021587.1:c.1585G>C	XP_016877076.1:p.Val529Leu
XM_017021588.1:c.1585G>C	XP_016877077.1:p.Val529Leu
NM_001164749.2:c.1891G>C MANE Select	NP_001158221.1:p.Val631Leu
NM_001165893.2:c.1801G>C	NP_001159365.1:p.Val601Leu
NM_022123.3:c.1795G>C	NP_071406.1:p.Val599Leu
NM_173159.3:c.1852G>C	NP_775182.1:p.Val618Leu
NM_001394988.1:c.1846G>C	NP_001381917.1:p.Val616Leu
NM_001394989.1:c.1792G>C	NP_001381918.1:p.Val598Leu