Canonical Allele Identifier: CA340879371

Gene: NEXN

Linked Data

• MyVariant Identifiers: chr1:g.78401691C>A (hg19) ; chr1:g.77936006C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936006C>A , CM000663.2:g.77936006C>A	GRCh38
NC_000001.10:g.78401691C>A , CM000663.1:g.78401691C>A	GRCh37
NC_000001.9:g.78174279C>A	NCBI36
NG_016625.1:g.52492C>A , LRG_442:g.52492C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1435C>A MANE Select	ENSP00000333938.7:p.Leu479Ile
ENST00000330010.12:c.1243C>A	ENSP00000327363.8:p.Leu415Ile
ENST00000334785.11:c.1435C>A	ENSP00000333938.7:p.Leu479Ile
ENST00000342754.5:c.1134C>A
ENST00000480732.2:n.1009C>A
NM_001172309.1:c.1243C>A	NP_001165780.1:p.Leu415Ile
NM_144573.3:c.1435C>A , LRG_442t1:c.1435C>A	NP_653174.3:p.Leu479Ile
XM_005271322.2:c.1435C>A	XP_005271379.1:p.Leu479Ile
XM_005271323.2:c.1393C>A	XP_005271380.1:p.Leu465Ile
XM_005271324.3:c.1243C>A	XP_005271381.1:p.Leu415Ile
XM_005271325.2:c.1251+2527C>A	XP_005271382.1:n.1251+2527C>A
XM_005271326.2:c.1201C>A	XP_005271383.1:p.Leu401Ile
XM_005271327.2:c.1018C>A	XP_005271384.1:p.Leu340Ile
XM_005271322.4:c.1435C>A	XP_005271379.1:p.Leu479Ile
XM_005271323.4:c.1393C>A	XP_005271380.1:p.Leu465Ile
XM_005271324.5:c.1243C>A	XP_005271381.1:p.Leu415Ile
XM_005271325.4:c.1251+2527C>A	XP_005271382.1:n.1251+2527C>A
XM_005271326.4:c.1201C>A	XP_005271383.1:p.Leu401Ile
XM_005271327.4:c.1018C>A	XP_005271384.1:p.Leu340Ile
NM_001172309.2:c.1243C>A	NP_001165780.1:p.Leu415Ile
NM_144573.4:c.1435C>A MANE Select	NP_653174.3:p.Leu479Ile