Canonical Allele Identifier: CA179735445

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 467772
• ClinVar RCV Id: RCV000556352 ; RCV001161263 ; RCV001161262
• dbSNP Id: rs778557691
• gnomAD v2: 8-75276301-A-G
• gnomAD v3: 8-74364066-A-G
• gnomAD v4: 8-74364066-A-G
• MyVariant Identifiers: chr8:g.75276301A>G (hg19) ; chr8:g.74364066A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364066A>G , CM000670.2:g.74364066A>G	GRCh38
NC_000008.10:g.75276301A>G , CM000670.1:g.75276301A>G	GRCh37
NC_000008.9:g.75438856A>G	NCBI36
NG_008787.2:g.47937A>G
NG_008787.3:g.47937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.776A>G MANE Select	ENSP00000220822.7:p.Lys259Arg
ENST00000434412.3:c.644A>G	ENSP00000417006.3:p.Lys215Arg
ENST00000520797.6:n.887A>G
ENST00000521096.6:n.632A>G
ENST00000522568.2:c.*448A>G	ENSP00000430136.1:n.*448A>G
ENST00000523640.2:c.165+12745A>G	ENSP00000502017.1:n.165+12745A>G
ENST00000524195.2:c.280+1013A>G	ENSP00000502308.1:n.280+1013A>G
ENST00000674612.1:c.449A>G	ENSP00000501864.1:p.Lys150Arg
ENST00000674710.1:c.694+1013A>G	ENSP00000502762.1:n.694+1013A>G
ENST00000674754.1:c.*2339A>G	ENSP00000502063.1:n.*2339A>G
ENST00000674756.1:c.*366+1013A>G	ENSP00000501860.1:n.*366+1013A>G
ENST00000674806.1:c.449A>G	ENSP00000502637.1:p.Lys150Arg
ENST00000674865.1:c.572A>G	ENSP00000502437.1:p.Lys191Arg
ENST00000674926.1:c.*1408A>G	ENSP00000501799.1:n.*1408A>G
ENST00000674934.1:c.*464A>G	ENSP00000502187.1:n.*464A>G
ENST00000674944.1:c.*1379A>G	ENSP00000501858.1:n.*1379A>G
ENST00000674946.1:c.694+1013A>G	ENSP00000501569.1:n.694+1013A>G
ENST00000674973.1:c.470A>G	ENSP00000502447.1:p.Lys157Arg
ENST00000675007.1:c.*514A>G	ENSP00000502119.1:n.*514A>G
ENST00000675060.1:c.*441A>G	ENSP00000501616.1:n.*441A>G
ENST00000675165.1:c.773A>G	ENSP00000502612.1:p.Lys258Arg
ENST00000675220.1:c.449A>G	ENSP00000502588.1:p.Lys150Arg
ENST00000675265.1:c.*526A>G	ENSP00000501848.1:n.*526A>G
ENST00000675336.1:c.*262A>G	ENSP00000502120.1:n.*262A>G
ENST00000675376.1:c.449A>G	ENSP00000502838.1:p.Lys150Arg
ENST00000675463.1:c.854A>G	ENSP00000502327.1:p.Lys285Arg
ENST00000675472.1:c.*262A>G	ENSP00000501946.1:n.*262A>G
ENST00000675474.1:n.361A>G
ENST00000675560.1:c.*366+1013A>G	ENSP00000502118.1:n.*366+1013A>G
ENST00000675625.1:c.*448A>G	ENSP00000501626.1:n.*448A>G
ENST00000675633.1:c.*183A>G	ENSP00000501785.1:n.*183A>G
ENST00000675661.1:c.*536A>G	ENSP00000501958.1:n.*536A>G
ENST00000675706.1:n.2734A>G
ENST00000675821.1:c.449A>G	ENSP00000502198.1:p.Lys150Arg
ENST00000675832.1:c.*448A>G	ENSP00000502041.1:n.*448A>G
ENST00000675928.1:c.602A>G	ENSP00000501568.1:p.Lys201Arg
ENST00000675944.1:c.572A>G	ENSP00000502673.1:p.Lys191Arg
ENST00000675999.1:c.694+1013A>G	ENSP00000502572.1:n.694+1013A>G
ENST00000676049.1:c.*678A>G	ENSP00000501912.1:n.*678A>G
ENST00000676112.1:c.842A>G	ENSP00000502295.1:p.Lys281Arg
ENST00000676143.1:c.449A>G	ENSP00000502828.1:p.Lys150Arg
ENST00000676207.1:c.694+1013A>G	ENSP00000502638.1:n.694+1013A>G
ENST00000676377.1:c.449A>G	ENSP00000502756.1:p.Lys150Arg
ENST00000676415.1:c.*82A>G	ENSP00000502665.1:n.*82A>G
ENST00000676443.1:c.728A>G	ENSP00000501769.1:p.Lys243Arg
ENST00000220822.11:c.776A>G	ENSP00000220822.7:p.Lys259Arg
ENST00000434412.2:c.572A>G	ENSP00000417006.2:p.Lys191Arg
ENST00000520797.5:n.541A>G
ENST00000521096.5:n.582A>G
ENST00000522568.1:c.*448A>G	ENSP00000430136.1:n.*448A>G
ENST00000524195.1:n.103+1013A>G
NM_001040875.2:c.572A>G	NP_001035808.1:p.Lys191Arg
NM_018972.2:c.776A>G	NP_061845.2:p.Lys259Arg
NR_046346.1:n.710A>G
XM_011517551.1:c.1070A>G	XP_011515853.1:p.Lys357Arg
XM_011517552.1:c.449A>G	XP_011515854.1:p.Lys150Arg
NM_001040875.3:c.572A>G	NP_001035808.1:p.Lys191Arg
NM_001362929.1:c.449A>G	NP_001349858.1:p.Lys150Arg
NM_001362930.1:c.602A>G	NP_001349859.1:p.Lys201Arg
NM_001362931.1:c.694+1013A>G	NP_001349860.1:n.694+1013A>G
NM_001362932.1:c.449A>G	NP_001349861.1:p.Lys150Arg
NM_018972.3:c.776A>G	NP_061845.2:p.Lys259Arg
NM_001362931.2:c.694+1013A>G	NP_001349860.1:n.694+1013A>G
NM_018972.4:c.776A>G MANE Select	NP_061845.2:p.Lys259Arg
NM_001040875.4:c.572A>G	NP_001035808.1:p.Lys191Arg
NM_001362929.2:c.449A>G	NP_001349858.1:p.Lys150Arg
NM_001362930.2:c.602A>G	NP_001349859.1:p.Lys201Arg
NM_001362932.2:c.449A>G	NP_001349861.1:p.Lys150Arg