Canonical Allele Identifier: CA389412941

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269390T>C (hg19) ; chr14:g.33800184T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800184T>C , CM000676.2:g.33800184T>C	GRCh38
NC_000014.8:g.34269390T>C , CM000676.1:g.34269390T>C	GRCh37
NC_000014.7:g.33339141T>C	NCBI36
NG_013036.1:g.865932T>C
NG_013036.2:g.865932T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1877T>C MANE Select	ENSP00000348460.4:p.Leu626Pro
ENST00000551634.6:c.1886T>C	ENSP00000448373.2:p.Leu629Pro
ENST00000680362.1:c.1777T>C
ENST00000681323.1:c.793+2603T>C
ENST00000346562.6:c.1781T>C	ENSP00000319610.5:p.Leu594Pro
ENST00000356141.8:c.1877T>C	ENSP00000348460.4:p.Leu626Pro
ENST00000357798.9:c.1838T>C	ENSP00000350446.5:p.Leu613Pro
ENST00000548645.5:c.1787T>C	ENSP00000448916.1:p.Leu596Pro
ENST00000551492.5:c.1892T>C	ENSP00000450392.1:p.Leu631Pro
ENST00000551634.5:c.1799T>C	ENSP00000448373.1:p.Leu600Pro
NM_001164749.1:c.1877T>C	NP_001158221.1:p.Leu626Pro
NM_001165893.1:c.1787T>C	NP_001159365.1:p.Leu596Pro
NM_022123.2:c.1781T>C	NP_071406.1:p.Leu594Pro
NM_173159.2:c.1838T>C	NP_775182.1:p.Leu613Pro
XM_005267991.2:c.1898T>C	XP_005268048.1:p.Leu633Pro
XM_005267992.2:c.1892T>C	XP_005268049.1:p.Leu631Pro
XM_005267993.2:c.1838T>C	XP_005268050.1:p.Leu613Pro
XM_011537067.1:c.1928T>C	XP_011535369.1:p.Leu643Pro
XM_011537068.1:c.1919T>C	XP_011535370.1:p.Leu640Pro
XM_011537069.1:c.1889T>C	XP_011535371.1:p.Leu630Pro
XM_011537070.1:c.1832T>C	XP_011535372.1:p.Leu611Pro
XM_011537071.1:c.1799T>C	XP_011535373.1:p.Leu600Pro
XM_011537072.1:c.1778T>C	XP_011535374.1:p.Leu593Pro
XM_011537073.1:c.1571T>C	XP_011535375.1:p.Leu524Pro
XM_011537074.1:c.1571T>C	XP_011535376.1:p.Leu524Pro
XM_005267991.3:c.1985T>C	XP_005268048.2:p.Leu662Pro
XM_005267992.3:c.1979T>C	XP_005268049.2:p.Leu660Pro
XM_011537067.2:c.1928T>C	XP_011535369.1:p.Leu643Pro
XM_011537069.2:c.1976T>C	XP_011535371.2:p.Leu659Pro
XM_011537070.2:c.1832T>C	XP_011535372.1:p.Leu611Pro
XM_011537071.2:c.1886T>C	XP_011535373.2:p.Leu629Pro
XM_011537072.2:c.1778T>C	XP_011535374.1:p.Leu593Pro
XM_017021582.1:c.2036T>C	XP_016877071.1:p.Leu679Pro
XM_017021583.1:c.2027T>C	XP_016877072.1:p.Leu676Pro
XM_017021584.1:c.1946T>C	XP_016877073.1:p.Leu649Pro
XM_017021585.1:c.1895T>C	XP_016877074.1:p.Leu632Pro
XM_017021586.1:c.1571T>C	XP_016877075.1:p.Leu524Pro
XM_017021587.1:c.1571T>C	XP_016877076.1:p.Leu524Pro
XM_017021588.1:c.1571T>C	XP_016877077.1:p.Leu524Pro
NM_001164749.2:c.1877T>C MANE Select	NP_001158221.1:p.Leu626Pro
NM_001165893.2:c.1787T>C	NP_001159365.1:p.Leu596Pro
NM_022123.3:c.1781T>C	NP_071406.1:p.Leu594Pro
NM_173159.3:c.1838T>C	NP_775182.1:p.Leu613Pro
NM_001394988.1:c.1832T>C	NP_001381917.1:p.Leu611Pro
NM_001394989.1:c.1778T>C	NP_001381918.1:p.Leu593Pro