Canonical Allele Identifier: CA7150953

Gene: NPAS3

Linked Data

• dbSNP Id: rs781014114
• ExAC: 14:34269638 G / T
• gnomAD v2: 14-34269638-G-T
• gnomAD v4: 14-33800432-G-T
• MyVariant Identifiers: chr14:g.34269638G>T (hg19) ; chr14:g.33800432G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800432G>T , CM000676.2:g.33800432G>T	GRCh38
NC_000014.8:g.34269638G>T , CM000676.1:g.34269638G>T	GRCh37
NC_000014.7:g.33339389G>T	NCBI36
NG_013036.1:g.866180G>T
NG_013036.2:g.866180G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2125G>T MANE Select	ENSP00000348460.4:p.Val709Leu
ENST00000551634.6:c.2134G>T	ENSP00000448373.2:p.Val712Leu
ENST00000680362.1:c.2025G>T
ENST00000681323.1:c.793+2851G>T
ENST00000346562.6:c.2029G>T	ENSP00000319610.5:p.Val677Leu
ENST00000356141.8:c.2125G>T	ENSP00000348460.4:p.Val709Leu
ENST00000357798.9:c.2086G>T	ENSP00000350446.5:p.Val696Leu
ENST00000548645.5:c.2035G>T	ENSP00000448916.1:p.Val679Leu
ENST00000551492.5:c.2140G>T	ENSP00000450392.1:p.Val714Leu
ENST00000551634.5:c.2047G>T	ENSP00000448373.1:p.Val683Leu
NM_001164749.1:c.2125G>T	NP_001158221.1:p.Val709Leu
NM_001165893.1:c.2035G>T	NP_001159365.1:p.Val679Leu
NM_022123.2:c.2029G>T	NP_071406.1:p.Val677Leu
NM_173159.2:c.2086G>T	NP_775182.1:p.Val696Leu
XM_005267991.2:c.2146G>T	XP_005268048.1:p.Val716Leu
XM_005267992.2:c.2140G>T	XP_005268049.1:p.Val714Leu
XM_005267993.2:c.2086G>T	XP_005268050.1:p.Val696Leu
XM_011537067.1:c.2176G>T	XP_011535369.1:p.Val726Leu
XM_011537068.1:c.2167G>T	XP_011535370.1:p.Val723Leu
XM_011537069.1:c.2137G>T	XP_011535371.1:p.Val713Leu
XM_011537070.1:c.2080G>T	XP_011535372.1:p.Val694Leu
XM_011537071.1:c.2047G>T	XP_011535373.1:p.Val683Leu
XM_011537072.1:c.2026G>T	XP_011535374.1:p.Val676Leu
XM_011537073.1:c.1819G>T	XP_011535375.1:p.Val607Leu
XM_011537074.1:c.1819G>T	XP_011535376.1:p.Val607Leu
XM_005267991.3:c.2233G>T	XP_005268048.2:p.Val745Leu
XM_005267992.3:c.2227G>T	XP_005268049.2:p.Val743Leu
XM_011537067.2:c.2176G>T	XP_011535369.1:p.Val726Leu
XM_011537069.2:c.2224G>T	XP_011535371.2:p.Val742Leu
XM_011537070.2:c.2080G>T	XP_011535372.1:p.Val694Leu
XM_011537071.2:c.2134G>T	XP_011535373.2:p.Val712Leu
XM_011537072.2:c.2026G>T	XP_011535374.1:p.Val676Leu
XM_017021582.1:c.2284G>T	XP_016877071.1:p.Val762Leu
XM_017021583.1:c.2275G>T	XP_016877072.1:p.Val759Leu
XM_017021584.1:c.2194G>T	XP_016877073.1:p.Val732Leu
XM_017021585.1:c.2143G>T	XP_016877074.1:p.Val715Leu
XM_017021586.1:c.1819G>T	XP_016877075.1:p.Val607Leu
XM_017021587.1:c.1819G>T	XP_016877076.1:p.Val607Leu
XM_017021588.1:c.1819G>T	XP_016877077.1:p.Val607Leu
NM_001164749.2:c.2125G>T MANE Select	NP_001158221.1:p.Val709Leu
NM_001165893.2:c.2035G>T	NP_001159365.1:p.Val679Leu
NM_022123.3:c.2029G>T	NP_071406.1:p.Val677Leu
NM_173159.3:c.2086G>T	NP_775182.1:p.Val696Leu
NM_001394988.1:c.2080G>T	NP_001381917.1:p.Val694Leu
NM_001394989.1:c.2026G>T	NP_001381918.1:p.Val676Leu