Canonical Allele Identifier: CA371550039

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276269C>G (hg19) ; chr8:g.74364034C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364034C>G , CM000670.2:g.74364034C>G	GRCh38
NC_000008.10:g.75276269C>G , CM000670.1:g.75276269C>G	GRCh37
NC_000008.9:g.75438824C>G	NCBI36
NG_008787.2:g.47905C>G
NG_008787.3:g.47905C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.744C>G MANE Select	ENSP00000220822.7:p.Asp248Glu
ENST00000434412.3:c.612C>G	ENSP00000417006.3:p.Asp204Glu
ENST00000520797.6:n.855C>G
ENST00000521096.6:n.600C>G
ENST00000522568.2:c.*416C>G	ENSP00000430136.1:n.*416C>G
ENST00000523640.2:c.165+12713C>G	ENSP00000502017.1:n.165+12713C>G
ENST00000524195.2:c.280+981C>G	ENSP00000502308.1:n.280+981C>G
ENST00000674612.1:c.417C>G	ENSP00000501864.1:p.Asp139Glu
ENST00000674710.1:c.694+981C>G	ENSP00000502762.1:n.694+981C>G
ENST00000674754.1:c.*2307C>G	ENSP00000502063.1:n.*2307C>G
ENST00000674756.1:c.*366+981C>G	ENSP00000501860.1:n.*366+981C>G
ENST00000674806.1:c.417C>G	ENSP00000502637.1:p.Asp139Glu
ENST00000674865.1:c.540C>G	ENSP00000502437.1:p.Asp180Glu
ENST00000674926.1:c.*1376C>G	ENSP00000501799.1:n.*1376C>G
ENST00000674934.1:c.*432C>G	ENSP00000502187.1:n.*432C>G
ENST00000674944.1:c.*1347C>G	ENSP00000501858.1:n.*1347C>G
ENST00000674946.1:c.694+981C>G	ENSP00000501569.1:n.694+981C>G
ENST00000674973.1:c.438C>G	ENSP00000502447.1:p.Asp146Glu
ENST00000675007.1:c.*482C>G	ENSP00000502119.1:n.*482C>G
ENST00000675060.1:c.*409C>G	ENSP00000501616.1:n.*409C>G
ENST00000675165.1:c.741C>G	ENSP00000502612.1:p.Asp247Glu
ENST00000675220.1:c.417C>G	ENSP00000502588.1:p.Asp139Glu
ENST00000675265.1:c.*494C>G	ENSP00000501848.1:n.*494C>G
ENST00000675336.1:c.*230C>G	ENSP00000502120.1:n.*230C>G
ENST00000675376.1:c.417C>G	ENSP00000502838.1:p.Asp139Glu
ENST00000675463.1:c.822C>G	ENSP00000502327.1:p.Asp274Glu
ENST00000675472.1:c.*230C>G	ENSP00000501946.1:n.*230C>G
ENST00000675474.1:n.329C>G
ENST00000675560.1:c.*366+981C>G	ENSP00000502118.1:n.*366+981C>G
ENST00000675625.1:c.*416C>G	ENSP00000501626.1:n.*416C>G
ENST00000675633.1:c.*151C>G	ENSP00000501785.1:n.*151C>G
ENST00000675661.1:c.*504C>G	ENSP00000501958.1:n.*504C>G
ENST00000675706.1:n.2702C>G
ENST00000675821.1:c.417C>G	ENSP00000502198.1:p.Asp139Glu
ENST00000675832.1:c.*416C>G	ENSP00000502041.1:n.*416C>G
ENST00000675928.1:c.570C>G	ENSP00000501568.1:p.Asp190Glu
ENST00000675944.1:c.540C>G	ENSP00000502673.1:p.Asp180Glu
ENST00000675999.1:c.694+981C>G	ENSP00000502572.1:n.694+981C>G
ENST00000676049.1:c.*646C>G	ENSP00000501912.1:n.*646C>G
ENST00000676112.1:c.810C>G	ENSP00000502295.1:p.Asp270Glu
ENST00000676143.1:c.417C>G	ENSP00000502828.1:p.Asp139Glu
ENST00000676207.1:c.694+981C>G	ENSP00000502638.1:n.694+981C>G
ENST00000676377.1:c.417C>G	ENSP00000502756.1:p.Asp139Glu
ENST00000676415.1:c.*50C>G	ENSP00000502665.1:n.*50C>G
ENST00000676443.1:c.696C>G	ENSP00000501769.1:p.Asp232Glu
ENST00000220822.11:c.744C>G	ENSP00000220822.7:p.Asp248Glu
ENST00000434412.2:c.540C>G	ENSP00000417006.2:p.Asp180Glu
ENST00000520797.5:n.509C>G
ENST00000521096.5:n.550C>G
ENST00000522568.1:c.*416C>G	ENSP00000430136.1:n.*416C>G
ENST00000524195.1:n.103+981C>G
NM_001040875.2:c.540C>G	NP_001035808.1:p.Asp180Glu
NM_018972.2:c.744C>G	NP_061845.2:p.Asp248Glu
NR_046346.1:n.678C>G
XM_011517551.1:c.1038C>G	XP_011515853.1:p.Asp346Glu
XM_011517552.1:c.417C>G	XP_011515854.1:p.Asp139Glu
NM_001040875.3:c.540C>G	NP_001035808.1:p.Asp180Glu
NM_001362929.1:c.417C>G	NP_001349858.1:p.Asp139Glu
NM_001362930.1:c.570C>G	NP_001349859.1:p.Asp190Glu
NM_001362931.1:c.694+981C>G	NP_001349860.1:n.694+981C>G
NM_001362932.1:c.417C>G	NP_001349861.1:p.Asp139Glu
NM_018972.3:c.744C>G	NP_061845.2:p.Asp248Glu
NM_001362931.2:c.694+981C>G	NP_001349860.1:n.694+981C>G
NM_018972.4:c.744C>G MANE Select	NP_061845.2:p.Asp248Glu
NM_001040875.4:c.540C>G	NP_001035808.1:p.Asp180Glu
NM_001362929.2:c.417C>G	NP_001349858.1:p.Asp139Glu
NM_001362930.2:c.570C>G	NP_001349859.1:p.Asp190Glu
NM_001362932.2:c.417C>G	NP_001349861.1:p.Asp139Glu