Canonical Allele Identifier: CA4785203

Gene: GDAP1

Linked Data

• dbSNP Id: rs551652502
• ExAC: 8:75276340 A / G
• gnomAD v2: 8-75276340-A-G
• gnomAD v3: 8-74364105-A-G
• gnomAD v4: 8-74364105-A-G
• MyVariant Identifiers: chr8:g.75276340A>G (hg19) ; chr8:g.74364105A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364105A>G , CM000670.2:g.74364105A>G	GRCh38
NC_000008.10:g.75276340A>G , CM000670.1:g.75276340A>G	GRCh37
NC_000008.9:g.75438895A>G	NCBI36
NG_008787.2:g.47976A>G
NG_008787.3:g.47976A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.815A>G MANE Select	ENSP00000220822.7:p.Lys272Arg
ENST00000434412.3:c.683A>G	ENSP00000417006.3:p.Lys228Arg
ENST00000520797.6:n.926A>G
ENST00000521096.6:n.671A>G
ENST00000522568.2:c.*487A>G	ENSP00000430136.1:n.*487A>G
ENST00000523640.2:c.165+12784A>G	ENSP00000502017.1:n.165+12784A>G
ENST00000524195.2:c.280+1052A>G	ENSP00000502308.1:n.280+1052A>G
ENST00000674612.1:c.488A>G	ENSP00000501864.1:p.Lys163Arg
ENST00000674710.1:c.694+1052A>G	ENSP00000502762.1:n.694+1052A>G
ENST00000674754.1:c.*2378A>G	ENSP00000502063.1:n.*2378A>G
ENST00000674756.1:c.*366+1052A>G	ENSP00000501860.1:n.*366+1052A>G
ENST00000674806.1:c.488A>G	ENSP00000502637.1:p.Lys163Arg
ENST00000674865.1:c.611A>G	ENSP00000502437.1:p.Lys204Arg
ENST00000674926.1:c.*1447A>G	ENSP00000501799.1:n.*1447A>G
ENST00000674934.1:c.*503A>G	ENSP00000502187.1:n.*503A>G
ENST00000674944.1:c.*1418A>G	ENSP00000501858.1:n.*1418A>G
ENST00000674946.1:c.694+1052A>G	ENSP00000501569.1:n.694+1052A>G
ENST00000674973.1:c.509A>G	ENSP00000502447.1:p.Lys170Arg
ENST00000675007.1:c.*553A>G	ENSP00000502119.1:n.*553A>G
ENST00000675060.1:c.*480A>G	ENSP00000501616.1:n.*480A>G
ENST00000675165.1:c.812A>G	ENSP00000502612.1:p.Lys271Arg
ENST00000675220.1:c.488A>G	ENSP00000502588.1:p.Lys163Arg
ENST00000675265.1:c.*565A>G	ENSP00000501848.1:n.*565A>G
ENST00000675336.1:c.*301A>G	ENSP00000502120.1:n.*301A>G
ENST00000675376.1:c.488A>G	ENSP00000502838.1:p.Lys163Arg
ENST00000675463.1:c.893A>G	ENSP00000502327.1:p.Lys298Arg
ENST00000675472.1:c.*301A>G	ENSP00000501946.1:n.*301A>G
ENST00000675474.1:n.400A>G
ENST00000675560.1:c.*366+1052A>G	ENSP00000502118.1:n.*366+1052A>G
ENST00000675625.1:c.*487A>G	ENSP00000501626.1:n.*487A>G
ENST00000675633.1:c.*222A>G	ENSP00000501785.1:n.*222A>G
ENST00000675661.1:c.*575A>G	ENSP00000501958.1:n.*575A>G
ENST00000675706.1:n.2773A>G
ENST00000675821.1:c.488A>G	ENSP00000502198.1:p.Lys163Arg
ENST00000675832.1:c.*487A>G	ENSP00000502041.1:n.*487A>G
ENST00000675928.1:c.641A>G	ENSP00000501568.1:p.Lys214Arg
ENST00000675944.1:c.611A>G	ENSP00000502673.1:p.Lys204Arg
ENST00000675999.1:c.694+1052A>G	ENSP00000502572.1:n.694+1052A>G
ENST00000676049.1:c.*717A>G	ENSP00000501912.1:n.*717A>G
ENST00000676112.1:c.881A>G	ENSP00000502295.1:p.Lys294Arg
ENST00000676143.1:c.488A>G	ENSP00000502828.1:p.Lys163Arg
ENST00000676207.1:c.694+1052A>G	ENSP00000502638.1:n.694+1052A>G
ENST00000676377.1:c.488A>G	ENSP00000502756.1:p.Lys163Arg
ENST00000676415.1:c.*121A>G	ENSP00000502665.1:n.*121A>G
ENST00000676443.1:c.767A>G	ENSP00000501769.1:p.Lys256Arg
ENST00000220822.11:c.815A>G	ENSP00000220822.7:p.Lys272Arg
ENST00000434412.2:c.611A>G	ENSP00000417006.2:p.Lys204Arg
ENST00000520797.5:n.580A>G
ENST00000521096.5:n.621A>G
ENST00000522568.1:c.*487A>G	ENSP00000430136.1:n.*487A>G
ENST00000524195.1:n.103+1052A>G
NM_001040875.2:c.611A>G	NP_001035808.1:p.Lys204Arg
NM_018972.2:c.815A>G	NP_061845.2:p.Lys272Arg
NR_046346.1:n.749A>G
XM_011517551.1:c.1109A>G	XP_011515853.1:p.Lys370Arg
XM_011517552.1:c.488A>G	XP_011515854.1:p.Lys163Arg
NM_001040875.3:c.611A>G	NP_001035808.1:p.Lys204Arg
NM_001362929.1:c.488A>G	NP_001349858.1:p.Lys163Arg
NM_001362930.1:c.641A>G	NP_001349859.1:p.Lys214Arg
NM_001362931.1:c.694+1052A>G	NP_001349860.1:n.694+1052A>G
NM_001362932.1:c.488A>G	NP_001349861.1:p.Lys163Arg
NM_018972.3:c.815A>G	NP_061845.2:p.Lys272Arg
NM_001362931.2:c.694+1052A>G	NP_001349860.1:n.694+1052A>G
NM_018972.4:c.815A>G MANE Select	NP_061845.2:p.Lys272Arg
NM_001040875.4:c.611A>G	NP_001035808.1:p.Lys204Arg
NM_001362929.2:c.488A>G	NP_001349858.1:p.Lys163Arg
NM_001362930.2:c.641A>G	NP_001349859.1:p.Lys214Arg
NM_001362932.2:c.488A>G	NP_001349861.1:p.Lys163Arg