Canonical Allele Identifier: CA389414351

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800586-C-T
• MyVariant Identifiers: chr14:g.34269792C>T (hg19) ; chr14:g.33800586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800586C>T , CM000676.2:g.33800586C>T	GRCh38
NC_000014.8:g.34269792C>T , CM000676.1:g.34269792C>T	GRCh37
NC_000014.7:g.33339543C>T	NCBI36
NG_013036.1:g.866334C>T
NG_013036.2:g.866334C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2279C>T MANE Select	ENSP00000348460.4:p.Pro760Leu
ENST00000551634.6:c.2288C>T	ENSP00000448373.2:p.Pro763Leu
ENST00000680362.1:c.2179C>T
ENST00000681323.1:c.793+3005C>T
ENST00000346562.6:c.2183C>T	ENSP00000319610.5:p.Pro728Leu
ENST00000356141.8:c.2279C>T	ENSP00000348460.4:p.Pro760Leu
ENST00000357798.9:c.2240C>T	ENSP00000350446.5:p.Pro747Leu
ENST00000548645.5:c.2189C>T	ENSP00000448916.1:p.Pro730Leu
ENST00000551492.5:c.2294C>T	ENSP00000450392.1:p.Pro765Leu
ENST00000551634.5:c.2201C>T	ENSP00000448373.1:p.Pro734Leu
NM_001164749.1:c.2279C>T	NP_001158221.1:p.Pro760Leu
NM_001165893.1:c.2189C>T	NP_001159365.1:p.Pro730Leu
NM_022123.2:c.2183C>T	NP_071406.1:p.Pro728Leu
NM_173159.2:c.2240C>T	NP_775182.1:p.Pro747Leu
XM_005267991.2:c.2300C>T	XP_005268048.1:p.Pro767Leu
XM_005267992.2:c.2294C>T	XP_005268049.1:p.Pro765Leu
XM_005267993.2:c.2240C>T	XP_005268050.1:p.Pro747Leu
XM_011537067.1:c.2330C>T	XP_011535369.1:p.Pro777Leu
XM_011537068.1:c.2321C>T	XP_011535370.1:p.Pro774Leu
XM_011537069.1:c.2291C>T	XP_011535371.1:p.Pro764Leu
XM_011537070.1:c.2234C>T	XP_011535372.1:p.Pro745Leu
XM_011537071.1:c.2201C>T	XP_011535373.1:p.Pro734Leu
XM_011537072.1:c.2180C>T	XP_011535374.1:p.Pro727Leu
XM_011537073.1:c.1973C>T	XP_011535375.1:p.Pro658Leu
XM_011537074.1:c.1973C>T	XP_011535376.1:p.Pro658Leu
XM_005267991.3:c.2387C>T	XP_005268048.2:p.Pro796Leu
XM_005267992.3:c.2381C>T	XP_005268049.2:p.Pro794Leu
XM_011537067.2:c.2330C>T	XP_011535369.1:p.Pro777Leu
XM_011537069.2:c.2378C>T	XP_011535371.2:p.Pro793Leu
XM_011537070.2:c.2234C>T	XP_011535372.1:p.Pro745Leu
XM_011537071.2:c.2288C>T	XP_011535373.2:p.Pro763Leu
XM_011537072.2:c.2180C>T	XP_011535374.1:p.Pro727Leu
XM_017021582.1:c.2438C>T	XP_016877071.1:p.Pro813Leu
XM_017021583.1:c.2429C>T	XP_016877072.1:p.Pro810Leu
XM_017021584.1:c.2348C>T	XP_016877073.1:p.Pro783Leu
XM_017021585.1:c.2297C>T	XP_016877074.1:p.Pro766Leu
XM_017021586.1:c.1973C>T	XP_016877075.1:p.Pro658Leu
XM_017021587.1:c.1973C>T	XP_016877076.1:p.Pro658Leu
XM_017021588.1:c.1973C>T	XP_016877077.1:p.Pro658Leu
NM_001164749.2:c.2279C>T MANE Select	NP_001158221.1:p.Pro760Leu
NM_001165893.2:c.2189C>T	NP_001159365.1:p.Pro730Leu
NM_022123.3:c.2183C>T	NP_071406.1:p.Pro728Leu
NM_173159.3:c.2240C>T	NP_775182.1:p.Pro747Leu
NM_001394988.1:c.2234C>T	NP_001381917.1:p.Pro745Leu
NM_001394989.1:c.2180C>T	NP_001381918.1:p.Pro727Leu