Canonical Allele Identifier: CA389414148

Gene: NPAS3

Linked Data

• dbSNP Id: rs1406731636
• gnomAD v2: 14-34269693-G-T
• gnomAD v3: 14-33800487-G-T
• gnomAD v4: 14-33800487-G-T
• MyVariant Identifiers: chr14:g.34269693G>T (hg19) ; chr14:g.33800487G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800487G>T , CM000676.2:g.33800487G>T	GRCh38
NC_000014.8:g.34269693G>T , CM000676.1:g.34269693G>T	GRCh37
NC_000014.7:g.33339444G>T	NCBI36
NG_013036.1:g.866235G>T
NG_013036.2:g.866235G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2180G>T MANE Select	ENSP00000348460.4:p.Arg727Leu
ENST00000551634.6:c.2189G>T	ENSP00000448373.2:p.Arg730Leu
ENST00000680362.1:c.2080G>T
ENST00000681323.1:c.793+2906G>T
ENST00000346562.6:c.2084G>T	ENSP00000319610.5:p.Arg695Leu
ENST00000356141.8:c.2180G>T	ENSP00000348460.4:p.Arg727Leu
ENST00000357798.9:c.2141G>T	ENSP00000350446.5:p.Arg714Leu
ENST00000548645.5:c.2090G>T	ENSP00000448916.1:p.Arg697Leu
ENST00000551492.5:c.2195G>T	ENSP00000450392.1:p.Arg732Leu
ENST00000551634.5:c.2102G>T	ENSP00000448373.1:p.Arg701Leu
NM_001164749.1:c.2180G>T	NP_001158221.1:p.Arg727Leu
NM_001165893.1:c.2090G>T	NP_001159365.1:p.Arg697Leu
NM_022123.2:c.2084G>T	NP_071406.1:p.Arg695Leu
NM_173159.2:c.2141G>T	NP_775182.1:p.Arg714Leu
XM_005267991.2:c.2201G>T	XP_005268048.1:p.Arg734Leu
XM_005267992.2:c.2195G>T	XP_005268049.1:p.Arg732Leu
XM_005267993.2:c.2141G>T	XP_005268050.1:p.Arg714Leu
XM_011537067.1:c.2231G>T	XP_011535369.1:p.Arg744Leu
XM_011537068.1:c.2222G>T	XP_011535370.1:p.Arg741Leu
XM_011537069.1:c.2192G>T	XP_011535371.1:p.Arg731Leu
XM_011537070.1:c.2135G>T	XP_011535372.1:p.Arg712Leu
XM_011537071.1:c.2102G>T	XP_011535373.1:p.Arg701Leu
XM_011537072.1:c.2081G>T	XP_011535374.1:p.Arg694Leu
XM_011537073.1:c.1874G>T	XP_011535375.1:p.Arg625Leu
XM_011537074.1:c.1874G>T	XP_011535376.1:p.Arg625Leu
XM_005267991.3:c.2288G>T	XP_005268048.2:p.Arg763Leu
XM_005267992.3:c.2282G>T	XP_005268049.2:p.Arg761Leu
XM_011537067.2:c.2231G>T	XP_011535369.1:p.Arg744Leu
XM_011537069.2:c.2279G>T	XP_011535371.2:p.Arg760Leu
XM_011537070.2:c.2135G>T	XP_011535372.1:p.Arg712Leu
XM_011537071.2:c.2189G>T	XP_011535373.2:p.Arg730Leu
XM_011537072.2:c.2081G>T	XP_011535374.1:p.Arg694Leu
XM_017021582.1:c.2339G>T	XP_016877071.1:p.Arg780Leu
XM_017021583.1:c.2330G>T	XP_016877072.1:p.Arg777Leu
XM_017021584.1:c.2249G>T	XP_016877073.1:p.Arg750Leu
XM_017021585.1:c.2198G>T	XP_016877074.1:p.Arg733Leu
XM_017021586.1:c.1874G>T	XP_016877075.1:p.Arg625Leu
XM_017021587.1:c.1874G>T	XP_016877076.1:p.Arg625Leu
XM_017021588.1:c.1874G>T	XP_016877077.1:p.Arg625Leu
NM_001164749.2:c.2180G>T MANE Select	NP_001158221.1:p.Arg727Leu
NM_001165893.2:c.2090G>T	NP_001159365.1:p.Arg697Leu
NM_022123.3:c.2084G>T	NP_071406.1:p.Arg695Leu
NM_173159.3:c.2141G>T	NP_775182.1:p.Arg714Leu
NM_001394988.1:c.2135G>T	NP_001381917.1:p.Arg712Leu
NM_001394989.1:c.2081G>T	NP_001381918.1:p.Arg694Leu