Canonical Allele Identifier: CA340881470

Gene: NEXN

Linked Data

• MyVariant Identifiers: chr1:g.78407856A>T (hg19) ; chr1:g.77942171A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942171A>T , CM000663.2:g.77942171A>T	GRCh38
NC_000001.10:g.78407856A>T , CM000663.1:g.78407856A>T	GRCh37
NC_000001.9:g.78180444A>T	NCBI36
NG_016625.1:g.58657A>T , LRG_442:g.58657A>T
NG_033243.2:g.41923T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1622A>T MANE Select	ENSP00000333938.7:p.Gln541Leu
ENST00000330010.12:c.1430A>T	ENSP00000327363.8:p.Gln477Leu
ENST00000334785.11:c.1622A>T	ENSP00000333938.7:p.Gln541Leu
ENST00000342754.5:c.1321A>T
ENST00000470735.1:n.461A>T
ENST00000480732.2:n.1196A>T
NM_001172309.1:c.1430A>T	NP_001165780.1:p.Gln477Leu
NM_144573.3:c.1622A>T , LRG_442t1:c.1622A>T	NP_653174.3:p.Gln541Leu
XM_005271322.2:c.1622A>T	XP_005271379.1:p.Gln541Leu
XM_005271323.2:c.1580A>T	XP_005271380.1:p.Gln527Leu
XM_005271324.3:c.1430A>T	XP_005271381.1:p.Gln477Leu
XM_005271325.2:c.1400A>T	XP_005271382.1:p.Gln467Leu
XM_005271326.2:c.1388A>T	XP_005271383.1:p.Gln463Leu
XM_005271327.2:c.1205A>T	XP_005271384.1:p.Gln402Leu
XM_005271322.4:c.1622A>T	XP_005271379.1:p.Gln541Leu
XM_005271323.4:c.1580A>T	XP_005271380.1:p.Gln527Leu
XM_005271324.5:c.1430A>T	XP_005271381.1:p.Gln477Leu
XM_005271325.4:c.1400A>T	XP_005271382.1:p.Gln467Leu
XM_005271326.4:c.1388A>T	XP_005271383.1:p.Gln463Leu
XM_005271327.4:c.1205A>T	XP_005271384.1:p.Gln402Leu
NM_001172309.2:c.1430A>T	NP_001165780.1:p.Gln477Leu
NM_144573.4:c.1622A>T MANE Select	NP_653174.3:p.Gln541Leu