Canonical Allele Identifier: CA340881587

Gene: NEXN

Linked Data

• MyVariant Identifiers: chr1:g.78407874T>G (hg19) ; chr1:g.77942189T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942189T>G , CM000663.2:g.77942189T>G	GRCh38
NC_000001.10:g.78407874T>G , CM000663.1:g.78407874T>G	GRCh37
NC_000001.9:g.78180462T>G	NCBI36
NG_016625.1:g.58675T>G , LRG_442:g.58675T>G
NG_033243.2:g.41905A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1640T>G MANE Select	ENSP00000333938.7:p.Ile547Ser
ENST00000330010.12:c.1448T>G	ENSP00000327363.8:p.Ile483Ser
ENST00000334785.11:c.1640T>G	ENSP00000333938.7:p.Ile547Ser
ENST00000342754.5:c.1339T>G
ENST00000470735.1:n.479T>G
ENST00000480732.2:n.1214T>G
NM_001172309.1:c.1448T>G	NP_001165780.1:p.Ile483Ser
NM_144573.3:c.1640T>G , LRG_442t1:c.1640T>G	NP_653174.3:p.Ile547Ser
XM_005271322.2:c.1640T>G	XP_005271379.1:p.Ile547Ser
XM_005271323.2:c.1598T>G	XP_005271380.1:p.Ile533Ser
XM_005271324.3:c.1448T>G	XP_005271381.1:p.Ile483Ser
XM_005271325.2:c.1418T>G	XP_005271382.1:p.Ile473Ser
XM_005271326.2:c.1406T>G	XP_005271383.1:p.Ile469Ser
XM_005271327.2:c.1223T>G	XP_005271384.1:p.Ile408Ser
XM_005271322.4:c.1640T>G	XP_005271379.1:p.Ile547Ser
XM_005271323.4:c.1598T>G	XP_005271380.1:p.Ile533Ser
XM_005271324.5:c.1448T>G	XP_005271381.1:p.Ile483Ser
XM_005271325.4:c.1418T>G	XP_005271382.1:p.Ile473Ser
XM_005271326.4:c.1406T>G	XP_005271383.1:p.Ile469Ser
XM_005271327.4:c.1223T>G	XP_005271384.1:p.Ile408Ser
NM_001172309.2:c.1448T>G	NP_001165780.1:p.Ile483Ser
NM_144573.4:c.1640T>G MANE Select	NP_653174.3:p.Ile547Ser