Canonical Allele Identifier: CA340881675

Gene: NEXN

Linked Data

• MyVariant Identifiers: chr1:g.78407891A>C (hg19) ; chr1:g.77942206A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942206A>C , CM000663.2:g.77942206A>C	GRCh38
NC_000001.10:g.78407891A>C , CM000663.1:g.78407891A>C	GRCh37
NC_000001.9:g.78180479A>C	NCBI36
NG_016625.1:g.58692A>C , LRG_442:g.58692A>C
NG_033243.2:g.41888T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000334785.12:c.1657A>C MANE Select	ENSP00000333938.7:p.Lys553Gln
ENST00000330010.12:c.1465A>C	ENSP00000327363.8:p.Lys489Gln
ENST00000334785.11:c.1657A>C	ENSP00000333938.7:p.Lys553Gln
ENST00000342754.5:c.1356A>C
ENST00000470735.1:n.496A>C
ENST00000480732.2:n.1231A>C
NM_001172309.1:c.1465A>C	NP_001165780.1:p.Lys489Gln
NM_144573.3:c.1657A>C , LRG_442t1:c.1657A>C	NP_653174.3:p.Lys553Gln
XM_005271322.2:c.1657A>C	XP_005271379.1:p.Lys553Gln
XM_005271323.2:c.1615A>C	XP_005271380.1:p.Lys539Gln
XM_005271324.3:c.1465A>C	XP_005271381.1:p.Lys489Gln
XM_005271325.2:c.1435A>C	XP_005271382.1:p.Lys479Gln
XM_005271326.2:c.1423A>C	XP_005271383.1:p.Lys475Gln
XM_005271327.2:c.1240A>C	XP_005271384.1:p.Lys414Gln
XM_005271322.4:c.1657A>C	XP_005271379.1:p.Lys553Gln
XM_005271323.4:c.1615A>C	XP_005271380.1:p.Lys539Gln
XM_005271324.5:c.1465A>C	XP_005271381.1:p.Lys489Gln
XM_005271325.4:c.1435A>C	XP_005271382.1:p.Lys479Gln
XM_005271326.4:c.1423A>C	XP_005271383.1:p.Lys475Gln
XM_005271327.4:c.1240A>C	XP_005271384.1:p.Lys414Gln
NM_001172309.2:c.1465A>C	NP_001165780.1:p.Lys489Gln
NM_144573.4:c.1657A>C MANE Select	NP_653174.3:p.Lys553Gln