Canonical Allele Identifier: CA373426612

Gene: GNE CLTA

Linked Data

• COSMIC: COSM1208417 ; COSM1208418 ; COSM1208419
• MyVariant Identifiers: chr9:g.36222910G>T (hg19) ; chr9:g.36222913G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222913G>T , CM000671.2:g.36222913G>T	GRCh38
NC_000009.11:g.36222910G>T , CM000671.1:g.36222910G>T	GRCh37
NC_000009.10:g.36212910G>T	NCBI36
NG_008246.1:g.59132C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1590C>A (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Asp530Glu
ENST00000543356.7:c.1320C>A (GNE)	ENSP00000437765.3:p.Asp440Glu
ENST00000642385.2:c.1497C>A (GNE) MANE Select	ENSP00000494141.2:p.Asp499Glu
ENST00000377902.5:c.1497C>A (GNE)	ENSP00000367134.4:p.Asp499Glu
ENST00000396594.7:c.1590C>A (GNE)	ENSP00000379839.3:p.Asp530Glu
ENST00000447283.6:c.1411+460C>A (GNE)	ENSP00000414760.2:n.1411+460C>A
ENST00000464497.5:c.485+18734G>T (CLTA)	ENSP00000419158.1:n.485+18734G>T
ENST00000539208.5:c.1167C>A (GNE)	ENSP00000445117.1:p.Asp389Glu
ENST00000539815.5:c.1497C>A (GNE)	ENSP00000439155.1:p.Asp499Glu
ENST00000543356.6:c.1482C>A (GNE)	ENSP00000437765.2:p.Asp494Glu
NM_001128227.2:c.1590C>A (GNE)	NP_001121699.1:p.Asp530Glu
NM_001190383.1:c.1411+460C>A (GNE)	NP_001177312.1:n.1411+460C>A
NM_001190384.1:c.1167C>A (GNE)	NP_001177313.1:p.Asp389Glu
NM_001190388.1:c.1482C>A (GNE)	NP_001177317.1:p.Asp494Glu
NM_005476.5:c.1497C>A (GNE)	NP_005467.1:p.Asp499Glu
XM_005251334.3:c.1437C>A (GNE)	XP_005251391.1:p.Asp479Glu
NM_001190383.2:c.1411+460C>A (GNE)	NP_001177312.1:n.1411+460C>A
NM_001190384.2:c.1167C>A (GNE)	NP_001177313.1:p.Asp389Glu
NM_005476.6:c.1497C>A (GNE)	NP_005467.1:p.Asp499Glu
XM_005251334.4:c.1437C>A (GNE)	XP_005251391.1:p.Asp479Glu
XM_017014167.1:c.1497C>A (GNE)	XP_016869656.1:p.Asp499Glu
XM_017014168.1:c.1344C>A (GNE)	XP_016869657.1:p.Asp448Glu
NM_001128227.3:c.1590C>A (GNE) MANE Plus Clinical	NP_001121699.1:p.Asp530Glu
NM_001190383.3:c.1411+460C>A (GNE)	NP_001177312.1:n.1411+460C>A
NM_001190384.3:c.1167C>A (GNE)	NP_001177313.1:p.Asp389Glu
NM_001190388.2:c.1320C>A (GNE)	NP_001177317.2:p.Asp440Glu
NM_001374797.1:c.1344C>A (GNE)	NP_001361726.1:p.Asp448Glu
NM_001374798.1:c.1320C>A (GNE)	NP_001361727.1:p.Asp440Glu
NM_005476.7:c.1497C>A (GNE) MANE Select	NP_005467.1:p.Asp499Glu