Canonical Allele Identifier: CA371550341

Gene: GDAP1

Linked Data

• gnomAD v4: 8-74364119-G-A
• MyVariant Identifiers: chr8:g.75276354G>A (hg19) ; chr8:g.74364119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364119G>A , CM000670.2:g.74364119G>A	GRCh38
NC_000008.10:g.75276354G>A , CM000670.1:g.75276354G>A	GRCh37
NC_000008.9:g.75438909G>A	NCBI36
NG_008787.2:g.47990G>A
NG_008787.3:g.47990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.829G>A MANE Select	ENSP00000220822.7:p.Glu277Lys
ENST00000434412.3:c.697G>A	ENSP00000417006.3:p.Glu233Lys
ENST00000520797.6:n.940G>A
ENST00000521096.6:n.685G>A
ENST00000522568.2:c.*501G>A	ENSP00000430136.1:n.*501G>A
ENST00000523640.2:c.165+12798G>A	ENSP00000502017.1:n.165+12798G>A
ENST00000524195.2:c.280+1066G>A	ENSP00000502308.1:n.280+1066G>A
ENST00000674612.1:c.502G>A	ENSP00000501864.1:p.Glu168Lys
ENST00000674710.1:c.694+1066G>A	ENSP00000502762.1:n.694+1066G>A
ENST00000674754.1:c.*2392G>A	ENSP00000502063.1:n.*2392G>A
ENST00000674756.1:c.*366+1066G>A	ENSP00000501860.1:n.*366+1066G>A
ENST00000674806.1:c.502G>A	ENSP00000502637.1:p.Glu168Lys
ENST00000674865.1:c.625G>A	ENSP00000502437.1:p.Glu209Lys
ENST00000674926.1:c.*1461G>A	ENSP00000501799.1:n.*1461G>A
ENST00000674934.1:c.*517G>A	ENSP00000502187.1:n.*517G>A
ENST00000674944.1:c.*1432G>A	ENSP00000501858.1:n.*1432G>A
ENST00000674946.1:c.694+1066G>A	ENSP00000501569.1:n.694+1066G>A
ENST00000674973.1:c.523G>A	ENSP00000502447.1:p.Glu175Lys
ENST00000675007.1:c.*567G>A	ENSP00000502119.1:n.*567G>A
ENST00000675060.1:c.*494G>A	ENSP00000501616.1:n.*494G>A
ENST00000675165.1:c.826G>A	ENSP00000502612.1:p.Glu276Lys
ENST00000675220.1:c.502G>A	ENSP00000502588.1:p.Glu168Lys
ENST00000675265.1:c.*579G>A	ENSP00000501848.1:n.*579G>A
ENST00000675336.1:c.*315G>A	ENSP00000502120.1:n.*315G>A
ENST00000675376.1:c.502G>A	ENSP00000502838.1:p.Glu168Lys
ENST00000675463.1:c.907G>A	ENSP00000502327.1:p.Glu303Lys
ENST00000675472.1:c.*315G>A	ENSP00000501946.1:n.*315G>A
ENST00000675474.1:n.414G>A
ENST00000675560.1:c.*366+1066G>A	ENSP00000502118.1:n.*366+1066G>A
ENST00000675625.1:c.*501G>A	ENSP00000501626.1:n.*501G>A
ENST00000675633.1:c.*236G>A	ENSP00000501785.1:n.*236G>A
ENST00000675661.1:c.*589G>A	ENSP00000501958.1:n.*589G>A
ENST00000675706.1:n.2787G>A
ENST00000675821.1:c.502G>A	ENSP00000502198.1:p.Glu168Lys
ENST00000675832.1:c.*501G>A	ENSP00000502041.1:n.*501G>A
ENST00000675928.1:c.655G>A	ENSP00000501568.1:p.Glu219Lys
ENST00000675944.1:c.625G>A	ENSP00000502673.1:p.Glu209Lys
ENST00000675999.1:c.694+1066G>A	ENSP00000502572.1:n.694+1066G>A
ENST00000676049.1:c.*731G>A	ENSP00000501912.1:n.*731G>A
ENST00000676112.1:c.895G>A	ENSP00000502295.1:p.Glu299Lys
ENST00000676143.1:c.502G>A	ENSP00000502828.1:p.Glu168Lys
ENST00000676207.1:c.694+1066G>A	ENSP00000502638.1:n.694+1066G>A
ENST00000676377.1:c.502G>A	ENSP00000502756.1:p.Glu168Lys
ENST00000676415.1:c.*135G>A	ENSP00000502665.1:n.*135G>A
ENST00000676443.1:c.781G>A	ENSP00000501769.1:p.Glu261Lys
ENST00000220822.11:c.829G>A	ENSP00000220822.7:p.Glu277Lys
ENST00000434412.2:c.625G>A	ENSP00000417006.2:p.Glu209Lys
ENST00000520797.5:n.594G>A
ENST00000521096.5:n.635G>A
ENST00000522568.1:c.*501G>A	ENSP00000430136.1:n.*501G>A
ENST00000524195.1:n.103+1066G>A
NM_001040875.2:c.625G>A	NP_001035808.1:p.Glu209Lys
NM_018972.2:c.829G>A	NP_061845.2:p.Glu277Lys
NR_046346.1:n.763G>A
XM_011517551.1:c.1123G>A	XP_011515853.1:p.Glu375Lys
XM_011517552.1:c.502G>A	XP_011515854.1:p.Glu168Lys
NM_001040875.3:c.625G>A	NP_001035808.1:p.Glu209Lys
NM_001362929.1:c.502G>A	NP_001349858.1:p.Glu168Lys
NM_001362930.1:c.655G>A	NP_001349859.1:p.Glu219Lys
NM_001362931.1:c.694+1066G>A	NP_001349860.1:n.694+1066G>A
NM_001362932.1:c.502G>A	NP_001349861.1:p.Glu168Lys
NM_018972.3:c.829G>A	NP_061845.2:p.Glu277Lys
NM_001362931.2:c.694+1066G>A	NP_001349860.1:n.694+1066G>A
NM_018972.4:c.829G>A MANE Select	NP_061845.2:p.Glu277Lys
NM_001040875.4:c.625G>A	NP_001035808.1:p.Glu209Lys
NM_001362929.2:c.502G>A	NP_001349858.1:p.Glu168Lys
NM_001362930.2:c.655G>A	NP_001349859.1:p.Glu219Lys
NM_001362932.2:c.502G>A	NP_001349861.1:p.Glu168Lys