Canonical Allele Identifier: CA389413161

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269446G>T (hg19) ; chr14:g.33800240G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800240G>T , CM000676.2:g.33800240G>T	GRCh38
NC_000014.8:g.34269446G>T , CM000676.1:g.34269446G>T	GRCh37
NC_000014.7:g.33339197G>T	NCBI36
NG_013036.1:g.865988G>T
NG_013036.2:g.865988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1933G>T MANE Select	ENSP00000348460.4:p.Val645Leu
ENST00000551634.6:c.1942G>T	ENSP00000448373.2:p.Val648Leu
ENST00000680362.1:c.1833G>T
ENST00000681323.1:c.793+2659G>T
ENST00000346562.6:c.1837G>T	ENSP00000319610.5:p.Val613Leu
ENST00000356141.8:c.1933G>T	ENSP00000348460.4:p.Val645Leu
ENST00000357798.9:c.1894G>T	ENSP00000350446.5:p.Val632Leu
ENST00000548645.5:c.1843G>T	ENSP00000448916.1:p.Val615Leu
ENST00000551492.5:c.1948G>T	ENSP00000450392.1:p.Val650Leu
ENST00000551634.5:c.1855G>T	ENSP00000448373.1:p.Val619Leu
NM_001164749.1:c.1933G>T	NP_001158221.1:p.Val645Leu
NM_001165893.1:c.1843G>T	NP_001159365.1:p.Val615Leu
NM_022123.2:c.1837G>T	NP_071406.1:p.Val613Leu
NM_173159.2:c.1894G>T	NP_775182.1:p.Val632Leu
XM_005267991.2:c.1954G>T	XP_005268048.1:p.Val652Leu
XM_005267992.2:c.1948G>T	XP_005268049.1:p.Val650Leu
XM_005267993.2:c.1894G>T	XP_005268050.1:p.Val632Leu
XM_011537067.1:c.1984G>T	XP_011535369.1:p.Val662Leu
XM_011537068.1:c.1975G>T	XP_011535370.1:p.Val659Leu
XM_011537069.1:c.1945G>T	XP_011535371.1:p.Val649Leu
XM_011537070.1:c.1888G>T	XP_011535372.1:p.Val630Leu
XM_011537071.1:c.1855G>T	XP_011535373.1:p.Val619Leu
XM_011537072.1:c.1834G>T	XP_011535374.1:p.Val612Leu
XM_011537073.1:c.1627G>T	XP_011535375.1:p.Val543Leu
XM_011537074.1:c.1627G>T	XP_011535376.1:p.Val543Leu
XM_005267991.3:c.2041G>T	XP_005268048.2:p.Val681Leu
XM_005267992.3:c.2035G>T	XP_005268049.2:p.Val679Leu
XM_011537067.2:c.1984G>T	XP_011535369.1:p.Val662Leu
XM_011537069.2:c.2032G>T	XP_011535371.2:p.Val678Leu
XM_011537070.2:c.1888G>T	XP_011535372.1:p.Val630Leu
XM_011537071.2:c.1942G>T	XP_011535373.2:p.Val648Leu
XM_011537072.2:c.1834G>T	XP_011535374.1:p.Val612Leu
XM_017021582.1:c.2092G>T	XP_016877071.1:p.Val698Leu
XM_017021583.1:c.2083G>T	XP_016877072.1:p.Val695Leu
XM_017021584.1:c.2002G>T	XP_016877073.1:p.Val668Leu
XM_017021585.1:c.1951G>T	XP_016877074.1:p.Val651Leu
XM_017021586.1:c.1627G>T	XP_016877075.1:p.Val543Leu
XM_017021587.1:c.1627G>T	XP_016877076.1:p.Val543Leu
XM_017021588.1:c.1627G>T	XP_016877077.1:p.Val543Leu
NM_001164749.2:c.1933G>T MANE Select	NP_001158221.1:p.Val645Leu
NM_001165893.2:c.1843G>T	NP_001159365.1:p.Val615Leu
NM_022123.3:c.1837G>T	NP_071406.1:p.Val613Leu
NM_173159.3:c.1894G>T	NP_775182.1:p.Val632Leu
NM_001394988.1:c.1888G>T	NP_001381917.1:p.Val630Leu
NM_001394989.1:c.1834G>T	NP_001381918.1:p.Val612Leu