Canonical Allele Identifier: CA340881635

Gene: NEXN

Linked Data

• MyVariant Identifiers: chr1:g.78407880C>T (hg19) ; chr1:g.77942195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942195C>T , CM000663.2:g.77942195C>T	GRCh38
NC_000001.10:g.78407880C>T , CM000663.1:g.78407880C>T	GRCh37
NC_000001.9:g.78180468C>T	NCBI36
NG_016625.1:g.58681C>T , LRG_442:g.58681C>T
NG_033243.2:g.41899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1646C>T MANE Select	ENSP00000333938.7:p.Ala549Val
ENST00000330010.12:c.1454C>T	ENSP00000327363.8:p.Ala485Val
ENST00000334785.11:c.1646C>T	ENSP00000333938.7:p.Ala549Val
ENST00000342754.5:c.1345C>T
ENST00000470735.1:n.485C>T
ENST00000480732.2:n.1220C>T
NM_001172309.1:c.1454C>T	NP_001165780.1:p.Ala485Val
NM_144573.3:c.1646C>T , LRG_442t1:c.1646C>T	NP_653174.3:p.Ala549Val
XM_005271322.2:c.1646C>T	XP_005271379.1:p.Ala549Val
XM_005271323.2:c.1604C>T	XP_005271380.1:p.Ala535Val
XM_005271324.3:c.1454C>T	XP_005271381.1:p.Ala485Val
XM_005271325.2:c.1424C>T	XP_005271382.1:p.Ala475Val
XM_005271326.2:c.1412C>T	XP_005271383.1:p.Ala471Val
XM_005271327.2:c.1229C>T	XP_005271384.1:p.Ala410Val
XM_005271322.4:c.1646C>T	XP_005271379.1:p.Ala549Val
XM_005271323.4:c.1604C>T	XP_005271380.1:p.Ala535Val
XM_005271324.5:c.1454C>T	XP_005271381.1:p.Ala485Val
XM_005271325.4:c.1424C>T	XP_005271382.1:p.Ala475Val
XM_005271326.4:c.1412C>T	XP_005271383.1:p.Ala471Val
XM_005271327.4:c.1229C>T	XP_005271384.1:p.Ala410Val
NM_001172309.2:c.1454C>T	NP_001165780.1:p.Ala485Val
NM_144573.4:c.1646C>T MANE Select	NP_653174.3:p.Ala549Val