Canonical Allele Identifier: CA340881640

Gene: NEXN

Linked Data

• MyVariant Identifiers: chr1:g.78407882G>A (hg19) ; chr1:g.77942197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942197G>A , CM000663.2:g.77942197G>A	GRCh38
NC_000001.10:g.78407882G>A , CM000663.1:g.78407882G>A	GRCh37
NC_000001.9:g.78180470G>A	NCBI36
NG_016625.1:g.58683G>A , LRG_442:g.58683G>A
NG_033243.2:g.41897C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1648G>A MANE Select	ENSP00000333938.7:p.Ala550Thr
ENST00000330010.12:c.1456G>A	ENSP00000327363.8:p.Ala486Thr
ENST00000334785.11:c.1648G>A	ENSP00000333938.7:p.Ala550Thr
ENST00000342754.5:c.1347G>A
ENST00000470735.1:n.487G>A
ENST00000480732.2:n.1222G>A
NM_001172309.1:c.1456G>A	NP_001165780.1:p.Ala486Thr
NM_144573.3:c.1648G>A , LRG_442t1:c.1648G>A	NP_653174.3:p.Ala550Thr
XM_005271322.2:c.1648G>A	XP_005271379.1:p.Ala550Thr
XM_005271323.2:c.1606G>A	XP_005271380.1:p.Ala536Thr
XM_005271324.3:c.1456G>A	XP_005271381.1:p.Ala486Thr
XM_005271325.2:c.1426G>A	XP_005271382.1:p.Ala476Thr
XM_005271326.2:c.1414G>A	XP_005271383.1:p.Ala472Thr
XM_005271327.2:c.1231G>A	XP_005271384.1:p.Ala411Thr
XM_005271322.4:c.1648G>A	XP_005271379.1:p.Ala550Thr
XM_005271323.4:c.1606G>A	XP_005271380.1:p.Ala536Thr
XM_005271324.5:c.1456G>A	XP_005271381.1:p.Ala486Thr
XM_005271325.4:c.1426G>A	XP_005271382.1:p.Ala476Thr
XM_005271326.4:c.1414G>A	XP_005271383.1:p.Ala472Thr
XM_005271327.4:c.1231G>A	XP_005271384.1:p.Ala411Thr
NM_001172309.2:c.1456G>A	NP_001165780.1:p.Ala486Thr
NM_144573.4:c.1648G>A MANE Select	NP_653174.3:p.Ala550Thr