Canonical Allele Identifier: CA5289084

Gene: NUP214

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131144705C>T , CM000671.2:g.131144705C>T	GRCh38
NC_000009.11:g.134020092C>T , CM000671.1:g.134020092C>T	GRCh37
NC_000009.10:g.133009913C>T	NCBI36
NG_023371.1:g.24112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525561.2:n.2764C>T
ENST00000695494.1:n.1852C>T
ENST00000695495.1:n.1852C>T
ENST00000695496.1:n.1852C>T
ENST00000695497.1:c.1720C>T	ENSP00000511963.1:p.Pro574Ser
ENST00000695498.1:c.1720C>T	ENSP00000511964.1:p.Pro574Ser
ENST00000359428.10:c.1720C>T MANE Select	ENSP00000352400.5:p.Pro574Ser
ENST00000651022.1:c.1389C>T
ENST00000652454.1:c.1720C>T	ENSP00000499001.1:p.Pro574Ser
ENST00000359428.9:c.1720C>T	ENSP00000352400.5:p.Pro574Ser
ENST00000411637.6:c.1720C>T	ENSP00000396576.2:p.Pro574Ser
ENST00000451030.5:c.7C>T	ENSP00000405014.2:p.Pro3Ser
ENST00000525980.5:n.4C>T
ENST00000530863.1:c.446C>T
NM_005085.3:c.1720C>T	NP_005076.3:p.Pro574Ser
XM_005272216.2:c.1843C>T	XP_005272273.1:p.Pro615Ser
XM_005272217.2:c.1843C>T	XP_005272274.1:p.Pro615Ser
XM_005272218.2:c.1843C>T	XP_005272275.1:p.Pro615Ser
XM_005272219.2:c.1555C>T	XP_005272276.1:p.Pro519Ser
XM_006717292.2:c.1843C>T	XP_006717355.1:p.Pro615Ser
XM_011519053.1:c.1843C>T	XP_011517355.1:p.Pro615Ser
XM_011519054.1:c.1843C>T	XP_011517356.1:p.Pro615Ser
XM_011519055.1:c.1843C>T	XP_011517357.1:p.Pro615Ser
XM_011519056.1:c.1843C>T	XP_011517358.1:p.Pro615Ser
XM_011519057.1:c.1843C>T	XP_011517359.1:p.Pro615Ser
NM_001318324.1:c.1720C>T	NP_001305253.1:p.Pro574Ser
NM_005085.4:c.1720C>T MANE Select	NP_005076.3:p.Pro574Ser
NM_001318324.2:c.1720C>T	NP_001305253.1:p.Pro574Ser