Canonical Allele Identifier: CA371549819

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276224G>T (hg19) ; chr8:g.74363989G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74363989G>T , CM000670.2:g.74363989G>T	GRCh38
NC_000008.10:g.75276224G>T , CM000670.1:g.75276224G>T	GRCh37
NC_000008.9:g.75438779G>T	NCBI36
NG_008787.2:g.47860G>T
NG_008787.3:g.47860G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.699G>T MANE Select	ENSP00000220822.7:p.Glu233Asp
ENST00000434412.3:c.567G>T	ENSP00000417006.3:p.Glu189Asp
ENST00000520797.6:n.810G>T
ENST00000521096.6:n.555G>T
ENST00000522568.2:c.*371G>T	ENSP00000430136.1:n.*371G>T
ENST00000523640.2:c.165+12668G>T	ENSP00000502017.1:n.165+12668G>T
ENST00000524195.2:c.280+936G>T	ENSP00000502308.1:n.280+936G>T
ENST00000674612.1:c.372G>T	ENSP00000501864.1:p.Glu124Asp
ENST00000674710.1:c.694+936G>T	ENSP00000502762.1:n.694+936G>T
ENST00000674754.1:c.*2262G>T	ENSP00000502063.1:n.*2262G>T
ENST00000674756.1:c.*366+936G>T	ENSP00000501860.1:n.*366+936G>T
ENST00000674806.1:c.372G>T	ENSP00000502637.1:p.Glu124Asp
ENST00000674865.1:c.495G>T	ENSP00000502437.1:p.Glu165Asp
ENST00000674926.1:c.*1331G>T	ENSP00000501799.1:n.*1331G>T
ENST00000674934.1:c.*387G>T	ENSP00000502187.1:n.*387G>T
ENST00000674944.1:c.*1302G>T	ENSP00000501858.1:n.*1302G>T
ENST00000674946.1:c.694+936G>T	ENSP00000501569.1:n.694+936G>T
ENST00000674973.1:c.393G>T	ENSP00000502447.1:p.Glu131Asp
ENST00000675007.1:c.*437G>T	ENSP00000502119.1:n.*437G>T
ENST00000675060.1:c.*364G>T	ENSP00000501616.1:n.*364G>T
ENST00000675165.1:c.696G>T	ENSP00000502612.1:p.Glu232Asp
ENST00000675220.1:c.372G>T	ENSP00000502588.1:p.Glu124Asp
ENST00000675265.1:c.*449G>T	ENSP00000501848.1:n.*449G>T
ENST00000675336.1:c.*185G>T	ENSP00000502120.1:n.*185G>T
ENST00000675376.1:c.372G>T	ENSP00000502838.1:p.Glu124Asp
ENST00000675463.1:c.777G>T	ENSP00000502327.1:p.Glu259Asp
ENST00000675472.1:c.*185G>T	ENSP00000501946.1:n.*185G>T
ENST00000675474.1:n.284G>T
ENST00000675560.1:c.*366+936G>T	ENSP00000502118.1:n.*366+936G>T
ENST00000675625.1:c.*371G>T	ENSP00000501626.1:n.*371G>T
ENST00000675633.1:c.*106G>T	ENSP00000501785.1:n.*106G>T
ENST00000675661.1:c.*459G>T	ENSP00000501958.1:n.*459G>T
ENST00000675706.1:n.2657G>T
ENST00000675821.1:c.372G>T	ENSP00000502198.1:p.Glu124Asp
ENST00000675832.1:c.*371G>T	ENSP00000502041.1:n.*371G>T
ENST00000675928.1:c.525G>T	ENSP00000501568.1:p.Glu175Asp
ENST00000675944.1:c.495G>T	ENSP00000502673.1:p.Glu165Asp
ENST00000675999.1:c.694+936G>T	ENSP00000502572.1:n.694+936G>T
ENST00000676049.1:c.*601G>T	ENSP00000501912.1:n.*601G>T
ENST00000676112.1:c.765G>T	ENSP00000502295.1:p.Glu255Asp
ENST00000676143.1:c.372G>T	ENSP00000502828.1:p.Glu124Asp
ENST00000676207.1:c.694+936G>T	ENSP00000502638.1:n.694+936G>T
ENST00000676377.1:c.372G>T	ENSP00000502756.1:p.Glu124Asp
ENST00000676415.1:c.*5G>T	ENSP00000502665.1:n.*5G>T
ENST00000676443.1:c.651G>T	ENSP00000501769.1:p.Glu217Asp
ENST00000220822.11:c.699G>T	ENSP00000220822.7:p.Glu233Asp
ENST00000434412.2:c.495G>T	ENSP00000417006.2:p.Glu165Asp
ENST00000520797.5:n.464G>T
ENST00000521096.5:n.505G>T
ENST00000522568.1:c.*371G>T	ENSP00000430136.1:n.*371G>T
ENST00000524195.1:n.103+936G>T
ENST00000524366.5:n.543G>T
NM_001040875.2:c.495G>T	NP_001035808.1:p.Glu165Asp
NM_018972.2:c.699G>T	NP_061845.2:p.Glu233Asp
NR_046346.1:n.633G>T
XM_011517551.1:c.993G>T	XP_011515853.1:p.Glu331Asp
XM_011517552.1:c.372G>T	XP_011515854.1:p.Glu124Asp
NM_001040875.3:c.495G>T	NP_001035808.1:p.Glu165Asp
NM_001362929.1:c.372G>T	NP_001349858.1:p.Glu124Asp
NM_001362930.1:c.525G>T	NP_001349859.1:p.Glu175Asp
NM_001362931.1:c.694+936G>T	NP_001349860.1:n.694+936G>T
NM_001362932.1:c.372G>T	NP_001349861.1:p.Glu124Asp
NM_018972.3:c.699G>T	NP_061845.2:p.Glu233Asp
NM_001362931.2:c.694+936G>T	NP_001349860.1:n.694+936G>T
NM_018972.4:c.699G>T MANE Select	NP_061845.2:p.Glu233Asp
NM_001040875.4:c.495G>T	NP_001035808.1:p.Glu165Asp
NM_001362929.2:c.372G>T	NP_001349858.1:p.Glu124Asp
NM_001362930.2:c.525G>T	NP_001349859.1:p.Glu175Asp
NM_001362932.2:c.372G>T	NP_001349861.1:p.Glu124Asp