Canonical Allele Identifier: CA340881583

Gene: NEXN

Linked Data

• MyVariant Identifiers: chr1:g.78407873A>T (hg19) ; chr1:g.77942188A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942188A>T , CM000663.2:g.77942188A>T	GRCh38
NC_000001.10:g.78407873A>T , CM000663.1:g.78407873A>T	GRCh37
NC_000001.9:g.78180461A>T	NCBI36
NG_016625.1:g.58674A>T , LRG_442:g.58674A>T
NG_033243.2:g.41906T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1639A>T MANE Select	ENSP00000333938.7:p.Ile547Phe
ENST00000330010.12:c.1447A>T	ENSP00000327363.8:p.Ile483Phe
ENST00000334785.11:c.1639A>T	ENSP00000333938.7:p.Ile547Phe
ENST00000342754.5:c.1338A>T
ENST00000470735.1:n.478A>T
ENST00000480732.2:n.1213A>T
NM_001172309.1:c.1447A>T	NP_001165780.1:p.Ile483Phe
NM_144573.3:c.1639A>T , LRG_442t1:c.1639A>T	NP_653174.3:p.Ile547Phe
XM_005271322.2:c.1639A>T	XP_005271379.1:p.Ile547Phe
XM_005271323.2:c.1597A>T	XP_005271380.1:p.Ile533Phe
XM_005271324.3:c.1447A>T	XP_005271381.1:p.Ile483Phe
XM_005271325.2:c.1417A>T	XP_005271382.1:p.Ile473Phe
XM_005271326.2:c.1405A>T	XP_005271383.1:p.Ile469Phe
XM_005271327.2:c.1222A>T	XP_005271384.1:p.Ile408Phe
XM_005271322.4:c.1639A>T	XP_005271379.1:p.Ile547Phe
XM_005271323.4:c.1597A>T	XP_005271380.1:p.Ile533Phe
XM_005271324.5:c.1447A>T	XP_005271381.1:p.Ile483Phe
XM_005271325.4:c.1417A>T	XP_005271382.1:p.Ile473Phe
XM_005271326.4:c.1405A>T	XP_005271383.1:p.Ile469Phe
XM_005271327.4:c.1222A>T	XP_005271384.1:p.Ile408Phe
NM_001172309.2:c.1447A>T	NP_001165780.1:p.Ile483Phe
NM_144573.4:c.1639A>T MANE Select	NP_653174.3:p.Ile547Phe