Canonical Allele Identifier: CA389413712

Gene: NPAS3

Linked Data

• dbSNP Id: rs1450411759
• gnomAD v2: 14-34269567-C-T
• gnomAD v4: 14-33800361-C-T
• MyVariant Identifiers: chr14:g.34269567C>T (hg19) ; chr14:g.33800361C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800361C>T , CM000676.2:g.33800361C>T	GRCh38
NC_000014.8:g.34269567C>T , CM000676.1:g.34269567C>T	GRCh37
NC_000014.7:g.33339318C>T	NCBI36
NG_013036.1:g.866109C>T
NG_013036.2:g.866109C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2054C>T MANE Select	ENSP00000348460.4:p.Pro685Leu
ENST00000551634.6:c.2063C>T	ENSP00000448373.2:p.Pro688Leu
ENST00000680362.1:c.1954C>T
ENST00000681323.1:c.793+2780C>T
ENST00000346562.6:c.1958C>T	ENSP00000319610.5:p.Pro653Leu
ENST00000356141.8:c.2054C>T	ENSP00000348460.4:p.Pro685Leu
ENST00000357798.9:c.2015C>T	ENSP00000350446.5:p.Pro672Leu
ENST00000548645.5:c.1964C>T	ENSP00000448916.1:p.Pro655Leu
ENST00000551492.5:c.2069C>T	ENSP00000450392.1:p.Pro690Leu
ENST00000551634.5:c.1976C>T	ENSP00000448373.1:p.Pro659Leu
NM_001164749.1:c.2054C>T	NP_001158221.1:p.Pro685Leu
NM_001165893.1:c.1964C>T	NP_001159365.1:p.Pro655Leu
NM_022123.2:c.1958C>T	NP_071406.1:p.Pro653Leu
NM_173159.2:c.2015C>T	NP_775182.1:p.Pro672Leu
XM_005267991.2:c.2075C>T	XP_005268048.1:p.Pro692Leu
XM_005267992.2:c.2069C>T	XP_005268049.1:p.Pro690Leu
XM_005267993.2:c.2015C>T	XP_005268050.1:p.Pro672Leu
XM_011537067.1:c.2105C>T	XP_011535369.1:p.Pro702Leu
XM_011537068.1:c.2096C>T	XP_011535370.1:p.Pro699Leu
XM_011537069.1:c.2066C>T	XP_011535371.1:p.Pro689Leu
XM_011537070.1:c.2009C>T	XP_011535372.1:p.Pro670Leu
XM_011537071.1:c.1976C>T	XP_011535373.1:p.Pro659Leu
XM_011537072.1:c.1955C>T	XP_011535374.1:p.Pro652Leu
XM_011537073.1:c.1748C>T	XP_011535375.1:p.Pro583Leu
XM_011537074.1:c.1748C>T	XP_011535376.1:p.Pro583Leu
XM_005267991.3:c.2162C>T	XP_005268048.2:p.Pro721Leu
XM_005267992.3:c.2156C>T	XP_005268049.2:p.Pro719Leu
XM_011537067.2:c.2105C>T	XP_011535369.1:p.Pro702Leu
XM_011537069.2:c.2153C>T	XP_011535371.2:p.Pro718Leu
XM_011537070.2:c.2009C>T	XP_011535372.1:p.Pro670Leu
XM_011537071.2:c.2063C>T	XP_011535373.2:p.Pro688Leu
XM_011537072.2:c.1955C>T	XP_011535374.1:p.Pro652Leu
XM_017021582.1:c.2213C>T	XP_016877071.1:p.Pro738Leu
XM_017021583.1:c.2204C>T	XP_016877072.1:p.Pro735Leu
XM_017021584.1:c.2123C>T	XP_016877073.1:p.Pro708Leu
XM_017021585.1:c.2072C>T	XP_016877074.1:p.Pro691Leu
XM_017021586.1:c.1748C>T	XP_016877075.1:p.Pro583Leu
XM_017021587.1:c.1748C>T	XP_016877076.1:p.Pro583Leu
XM_017021588.1:c.1748C>T	XP_016877077.1:p.Pro583Leu
NM_001164749.2:c.2054C>T MANE Select	NP_001158221.1:p.Pro685Leu
NM_001165893.2:c.1964C>T	NP_001159365.1:p.Pro655Leu
NM_022123.3:c.1958C>T	NP_071406.1:p.Pro653Leu
NM_173159.3:c.2015C>T	NP_775182.1:p.Pro672Leu
NM_001394988.1:c.2009C>T	NP_001381917.1:p.Pro670Leu
NM_001394989.1:c.1955C>T	NP_001381918.1:p.Pro652Leu