Canonical Allele Identifier: CA389413038

Gene: NPAS3

Linked Data

• dbSNP Id: rs1185500585
• gnomAD v2: 14-34269414-C-T
• gnomAD v4: 14-33800208-C-T
• COSMIC: COSM4050595 ; COSM4050596 ; COSM4050597
• MyVariant Identifiers: chr14:g.34269414C>T (hg19) ; chr14:g.33800208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800208C>T , CM000676.2:g.33800208C>T	GRCh38
NC_000014.8:g.34269414C>T , CM000676.1:g.34269414C>T	GRCh37
NC_000014.7:g.33339165C>T	NCBI36
NG_013036.1:g.865956C>T
NG_013036.2:g.865956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1901C>T MANE Select	ENSP00000348460.4:p.Pro634Leu
ENST00000551634.6:c.1910C>T	ENSP00000448373.2:p.Pro637Leu
ENST00000680362.1:c.1801C>T
ENST00000681323.1:c.793+2627C>T
ENST00000346562.6:c.1805C>T	ENSP00000319610.5:p.Pro602Leu
ENST00000356141.8:c.1901C>T	ENSP00000348460.4:p.Pro634Leu
ENST00000357798.9:c.1862C>T	ENSP00000350446.5:p.Pro621Leu
ENST00000548645.5:c.1811C>T	ENSP00000448916.1:p.Pro604Leu
ENST00000551492.5:c.1916C>T	ENSP00000450392.1:p.Pro639Leu
ENST00000551634.5:c.1823C>T	ENSP00000448373.1:p.Pro608Leu
NM_001164749.1:c.1901C>T	NP_001158221.1:p.Pro634Leu
NM_001165893.1:c.1811C>T	NP_001159365.1:p.Pro604Leu
NM_022123.2:c.1805C>T	NP_071406.1:p.Pro602Leu
NM_173159.2:c.1862C>T	NP_775182.1:p.Pro621Leu
XM_005267991.2:c.1922C>T	XP_005268048.1:p.Pro641Leu
XM_005267992.2:c.1916C>T	XP_005268049.1:p.Pro639Leu
XM_005267993.2:c.1862C>T	XP_005268050.1:p.Pro621Leu
XM_011537067.1:c.1952C>T	XP_011535369.1:p.Pro651Leu
XM_011537068.1:c.1943C>T	XP_011535370.1:p.Pro648Leu
XM_011537069.1:c.1913C>T	XP_011535371.1:p.Pro638Leu
XM_011537070.1:c.1856C>T	XP_011535372.1:p.Pro619Leu
XM_011537071.1:c.1823C>T	XP_011535373.1:p.Pro608Leu
XM_011537072.1:c.1802C>T	XP_011535374.1:p.Pro601Leu
XM_011537073.1:c.1595C>T	XP_011535375.1:p.Pro532Leu
XM_011537074.1:c.1595C>T	XP_011535376.1:p.Pro532Leu
XM_005267991.3:c.2009C>T	XP_005268048.2:p.Pro670Leu
XM_005267992.3:c.2003C>T	XP_005268049.2:p.Pro668Leu
XM_011537067.2:c.1952C>T	XP_011535369.1:p.Pro651Leu
XM_011537069.2:c.2000C>T	XP_011535371.2:p.Pro667Leu
XM_011537070.2:c.1856C>T	XP_011535372.1:p.Pro619Leu
XM_011537071.2:c.1910C>T	XP_011535373.2:p.Pro637Leu
XM_011537072.2:c.1802C>T	XP_011535374.1:p.Pro601Leu
XM_017021582.1:c.2060C>T	XP_016877071.1:p.Pro687Leu
XM_017021583.1:c.2051C>T	XP_016877072.1:p.Pro684Leu
XM_017021584.1:c.1970C>T	XP_016877073.1:p.Pro657Leu
XM_017021585.1:c.1919C>T	XP_016877074.1:p.Pro640Leu
XM_017021586.1:c.1595C>T	XP_016877075.1:p.Pro532Leu
XM_017021587.1:c.1595C>T	XP_016877076.1:p.Pro532Leu
XM_017021588.1:c.1595C>T	XP_016877077.1:p.Pro532Leu
NM_001164749.2:c.1901C>T MANE Select	NP_001158221.1:p.Pro634Leu
NM_001165893.2:c.1811C>T	NP_001159365.1:p.Pro604Leu
NM_022123.3:c.1805C>T	NP_071406.1:p.Pro602Leu
NM_173159.3:c.1862C>T	NP_775182.1:p.Pro621Leu
NM_001394988.1:c.1856C>T	NP_001381917.1:p.Pro619Leu
NM_001394989.1:c.1802C>T	NP_001381918.1:p.Pro601Leu