Canonical Allele Identifier: CA373426072

Gene: GNE CLTA

Linked Data

• MyVariant Identifiers: chr9:g.36222789G>C (hg19) ; chr9:g.36222792G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222792G>C , CM000671.2:g.36222792G>C	GRCh38
NC_000009.11:g.36222789G>C , CM000671.1:g.36222789G>C	GRCh37
NC_000009.10:g.36212789G>C	NCBI36
NG_008246.1:g.59253C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.1711C>G (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Leu571Val
ENST00000543356.7:c.1441C>G (GNE)	ENSP00000437765.3:p.Leu481Val
ENST00000642385.2:c.1618C>G (GNE) MANE Select	ENSP00000494141.2:p.Leu540Val
ENST00000377902.5:c.1618C>G (GNE)	ENSP00000367134.4:p.Leu540Val
ENST00000396594.7:c.1711C>G (GNE)	ENSP00000379839.3:p.Leu571Val
ENST00000447283.6:c.1411+581C>G (GNE)	ENSP00000414760.2:n.1411+581C>G
ENST00000464497.5:c.485+18613G>C (CLTA)	ENSP00000419158.1:n.485+18613G>C
ENST00000539208.5:c.1288C>G (GNE)	ENSP00000445117.1:p.Leu430Val
ENST00000539815.5:c.1618C>G (GNE)	ENSP00000439155.1:p.Leu540Val
ENST00000543356.6:c.1603C>G (GNE)	ENSP00000437765.2:p.Leu535Val
NM_001128227.2:c.1711C>G (GNE)	NP_001121699.1:p.Leu571Val
NM_001190383.1:c.1411+581C>G (GNE)	NP_001177312.1:n.1411+581C>G
NM_001190384.1:c.1288C>G (GNE)	NP_001177313.1:p.Leu430Val
NM_001190388.1:c.1603C>G (GNE)	NP_001177317.1:p.Leu535Val
NM_005476.5:c.1618C>G (GNE)	NP_005467.1:p.Leu540Val
XM_005251334.3:c.1558C>G (GNE)	XP_005251391.1:p.Leu520Val
NM_001190383.2:c.1411+581C>G (GNE)	NP_001177312.1:n.1411+581C>G
NM_001190384.2:c.1288C>G (GNE)	NP_001177313.1:p.Leu430Val
NM_005476.6:c.1618C>G (GNE)	NP_005467.1:p.Leu540Val
XM_005251334.4:c.1558C>G (GNE)	XP_005251391.1:p.Leu520Val
XM_017014167.1:c.1618C>G (GNE)	XP_016869656.1:p.Leu540Val
XM_017014168.1:c.1465C>G (GNE)	XP_016869657.1:p.Leu489Val
NM_001128227.3:c.1711C>G (GNE) MANE Plus Clinical	NP_001121699.1:p.Leu571Val
NM_001190383.3:c.1411+581C>G (GNE)	NP_001177312.1:n.1411+581C>G
NM_001190384.3:c.1288C>G (GNE)	NP_001177313.1:p.Leu430Val
NM_001190388.2:c.1441C>G (GNE)	NP_001177317.2:p.Leu481Val
NM_001374797.1:c.1465C>G (GNE)	NP_001361726.1:p.Leu489Val
NM_001374798.1:c.1441C>G (GNE)	NP_001361727.1:p.Leu481Val
NM_005476.7:c.1618C>G (GNE) MANE Select	NP_005467.1:p.Leu540Val