Canonical Allele Identifier: CA389413476

Gene: NPAS3

Linked Data

• dbSNP Id: rs1411310504
• gnomAD v2: 14-34269516-C-T
• gnomAD v4: 14-33800310-C-T
• COSMIC: COSM433026 ; COSM433027 ; COSM1477539
• MyVariant Identifiers: chr14:g.34269516C>T (hg19) ; chr14:g.33800310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800310C>T , CM000676.2:g.33800310C>T	GRCh38
NC_000014.8:g.34269516C>T , CM000676.1:g.34269516C>T	GRCh37
NC_000014.7:g.33339267C>T	NCBI36
NG_013036.1:g.866058C>T
NG_013036.2:g.866058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2003C>T MANE Select	ENSP00000348460.4:p.Pro668Leu
ENST00000551634.6:c.2012C>T	ENSP00000448373.2:p.Pro671Leu
ENST00000680362.1:c.1903C>T
ENST00000681323.1:c.793+2729C>T
ENST00000346562.6:c.1907C>T	ENSP00000319610.5:p.Pro636Leu
ENST00000356141.8:c.2003C>T	ENSP00000348460.4:p.Pro668Leu
ENST00000357798.9:c.1964C>T	ENSP00000350446.5:p.Pro655Leu
ENST00000548645.5:c.1913C>T	ENSP00000448916.1:p.Pro638Leu
ENST00000551492.5:c.2018C>T	ENSP00000450392.1:p.Pro673Leu
ENST00000551634.5:c.1925C>T	ENSP00000448373.1:p.Pro642Leu
NM_001164749.1:c.2003C>T	NP_001158221.1:p.Pro668Leu
NM_001165893.1:c.1913C>T	NP_001159365.1:p.Pro638Leu
NM_022123.2:c.1907C>T	NP_071406.1:p.Pro636Leu
NM_173159.2:c.1964C>T	NP_775182.1:p.Pro655Leu
XM_005267991.2:c.2024C>T	XP_005268048.1:p.Pro675Leu
XM_005267992.2:c.2018C>T	XP_005268049.1:p.Pro673Leu
XM_005267993.2:c.1964C>T	XP_005268050.1:p.Pro655Leu
XM_011537067.1:c.2054C>T	XP_011535369.1:p.Pro685Leu
XM_011537068.1:c.2045C>T	XP_011535370.1:p.Pro682Leu
XM_011537069.1:c.2015C>T	XP_011535371.1:p.Pro672Leu
XM_011537070.1:c.1958C>T	XP_011535372.1:p.Pro653Leu
XM_011537071.1:c.1925C>T	XP_011535373.1:p.Pro642Leu
XM_011537072.1:c.1904C>T	XP_011535374.1:p.Pro635Leu
XM_011537073.1:c.1697C>T	XP_011535375.1:p.Pro566Leu
XM_011537074.1:c.1697C>T	XP_011535376.1:p.Pro566Leu
XM_005267991.3:c.2111C>T	XP_005268048.2:p.Pro704Leu
XM_005267992.3:c.2105C>T	XP_005268049.2:p.Pro702Leu
XM_011537067.2:c.2054C>T	XP_011535369.1:p.Pro685Leu
XM_011537069.2:c.2102C>T	XP_011535371.2:p.Pro701Leu
XM_011537070.2:c.1958C>T	XP_011535372.1:p.Pro653Leu
XM_011537071.2:c.2012C>T	XP_011535373.2:p.Pro671Leu
XM_011537072.2:c.1904C>T	XP_011535374.1:p.Pro635Leu
XM_017021582.1:c.2162C>T	XP_016877071.1:p.Pro721Leu
XM_017021583.1:c.2153C>T	XP_016877072.1:p.Pro718Leu
XM_017021584.1:c.2072C>T	XP_016877073.1:p.Pro691Leu
XM_017021585.1:c.2021C>T	XP_016877074.1:p.Pro674Leu
XM_017021586.1:c.1697C>T	XP_016877075.1:p.Pro566Leu
XM_017021587.1:c.1697C>T	XP_016877076.1:p.Pro566Leu
XM_017021588.1:c.1697C>T	XP_016877077.1:p.Pro566Leu
NM_001164749.2:c.2003C>T MANE Select	NP_001158221.1:p.Pro668Leu
NM_001165893.2:c.1913C>T	NP_001159365.1:p.Pro638Leu
NM_022123.3:c.1907C>T	NP_071406.1:p.Pro636Leu
NM_173159.3:c.1964C>T	NP_775182.1:p.Pro655Leu
NM_001394988.1:c.1958C>T	NP_001381917.1:p.Pro653Leu
NM_001394989.1:c.1904C>T	NP_001381918.1:p.Pro635Leu