Canonical Allele Identifier: CA7150909

Gene: NPAS3

Linked Data

• dbSNP Id: rs377100713
• ExAC: 14:34269432 C / T
• gnomAD v2: 14-34269432-C-T
• gnomAD v4: 14-33800226-C-T
• MyVariant Identifiers: chr14:g.34269432C>T (hg19) ; chr14:g.33800226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800226C>T , CM000676.2:g.33800226C>T	GRCh38
NC_000014.8:g.34269432C>T , CM000676.1:g.34269432C>T	GRCh37
NC_000014.7:g.33339183C>T	NCBI36
NG_013036.1:g.865974C>T
NG_013036.2:g.865974C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1919C>T MANE Select	ENSP00000348460.4:p.Pro640Leu
ENST00000551634.6:c.1928C>T	ENSP00000448373.2:p.Pro643Leu
ENST00000680362.1:c.1819C>T
ENST00000681323.1:c.793+2645C>T
ENST00000346562.6:c.1823C>T	ENSP00000319610.5:p.Pro608Leu
ENST00000356141.8:c.1919C>T	ENSP00000348460.4:p.Pro640Leu
ENST00000357798.9:c.1880C>T	ENSP00000350446.5:p.Pro627Leu
ENST00000548645.5:c.1829C>T	ENSP00000448916.1:p.Pro610Leu
ENST00000551492.5:c.1934C>T	ENSP00000450392.1:p.Pro645Leu
ENST00000551634.5:c.1841C>T	ENSP00000448373.1:p.Pro614Leu
NM_001164749.1:c.1919C>T	NP_001158221.1:p.Pro640Leu
NM_001165893.1:c.1829C>T	NP_001159365.1:p.Pro610Leu
NM_022123.2:c.1823C>T	NP_071406.1:p.Pro608Leu
NM_173159.2:c.1880C>T	NP_775182.1:p.Pro627Leu
XM_005267991.2:c.1940C>T	XP_005268048.1:p.Pro647Leu
XM_005267992.2:c.1934C>T	XP_005268049.1:p.Pro645Leu
XM_005267993.2:c.1880C>T	XP_005268050.1:p.Pro627Leu
XM_011537067.1:c.1970C>T	XP_011535369.1:p.Pro657Leu
XM_011537068.1:c.1961C>T	XP_011535370.1:p.Pro654Leu
XM_011537069.1:c.1931C>T	XP_011535371.1:p.Pro644Leu
XM_011537070.1:c.1874C>T	XP_011535372.1:p.Pro625Leu
XM_011537071.1:c.1841C>T	XP_011535373.1:p.Pro614Leu
XM_011537072.1:c.1820C>T	XP_011535374.1:p.Pro607Leu
XM_011537073.1:c.1613C>T	XP_011535375.1:p.Pro538Leu
XM_011537074.1:c.1613C>T	XP_011535376.1:p.Pro538Leu
XM_005267991.3:c.2027C>T	XP_005268048.2:p.Pro676Leu
XM_005267992.3:c.2021C>T	XP_005268049.2:p.Pro674Leu
XM_011537067.2:c.1970C>T	XP_011535369.1:p.Pro657Leu
XM_011537069.2:c.2018C>T	XP_011535371.2:p.Pro673Leu
XM_011537070.2:c.1874C>T	XP_011535372.1:p.Pro625Leu
XM_011537071.2:c.1928C>T	XP_011535373.2:p.Pro643Leu
XM_011537072.2:c.1820C>T	XP_011535374.1:p.Pro607Leu
XM_017021582.1:c.2078C>T	XP_016877071.1:p.Pro693Leu
XM_017021583.1:c.2069C>T	XP_016877072.1:p.Pro690Leu
XM_017021584.1:c.1988C>T	XP_016877073.1:p.Pro663Leu
XM_017021585.1:c.1937C>T	XP_016877074.1:p.Pro646Leu
XM_017021586.1:c.1613C>T	XP_016877075.1:p.Pro538Leu
XM_017021587.1:c.1613C>T	XP_016877076.1:p.Pro538Leu
XM_017021588.1:c.1613C>T	XP_016877077.1:p.Pro538Leu
NM_001164749.2:c.1919C>T MANE Select	NP_001158221.1:p.Pro640Leu
NM_001165893.2:c.1829C>T	NP_001159365.1:p.Pro610Leu
NM_022123.3:c.1823C>T	NP_071406.1:p.Pro608Leu
NM_173159.3:c.1880C>T	NP_775182.1:p.Pro627Leu
NM_001394988.1:c.1874C>T	NP_001381917.1:p.Pro625Leu
NM_001394989.1:c.1820C>T	NP_001381918.1:p.Pro607Leu