Canonical Allele Identifier: CA371550165

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276298T>G (hg19) ; chr8:g.74364063T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364063T>G , CM000670.2:g.74364063T>G	GRCh38
NC_000008.10:g.75276298T>G , CM000670.1:g.75276298T>G	GRCh37
NC_000008.9:g.75438853T>G	NCBI36
NG_008787.2:g.47934T>G
NG_008787.3:g.47934T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.773T>G MANE Select	ENSP00000220822.7:p.Leu258Arg
ENST00000434412.3:c.641T>G	ENSP00000417006.3:p.Leu214Arg
ENST00000520797.6:n.884T>G
ENST00000521096.6:n.629T>G
ENST00000522568.2:c.*445T>G	ENSP00000430136.1:n.*445T>G
ENST00000523640.2:c.165+12742T>G	ENSP00000502017.1:n.165+12742T>G
ENST00000524195.2:c.280+1010T>G	ENSP00000502308.1:n.280+1010T>G
ENST00000674612.1:c.446T>G	ENSP00000501864.1:p.Leu149Arg
ENST00000674710.1:c.694+1010T>G	ENSP00000502762.1:n.694+1010T>G
ENST00000674754.1:c.*2336T>G	ENSP00000502063.1:n.*2336T>G
ENST00000674756.1:c.*366+1010T>G	ENSP00000501860.1:n.*366+1010T>G
ENST00000674806.1:c.446T>G	ENSP00000502637.1:p.Leu149Arg
ENST00000674865.1:c.569T>G	ENSP00000502437.1:p.Leu190Arg
ENST00000674926.1:c.*1405T>G	ENSP00000501799.1:n.*1405T>G
ENST00000674934.1:c.*461T>G	ENSP00000502187.1:n.*461T>G
ENST00000674944.1:c.*1376T>G	ENSP00000501858.1:n.*1376T>G
ENST00000674946.1:c.694+1010T>G	ENSP00000501569.1:n.694+1010T>G
ENST00000674973.1:c.467T>G	ENSP00000502447.1:p.Leu156Arg
ENST00000675007.1:c.*511T>G	ENSP00000502119.1:n.*511T>G
ENST00000675060.1:c.*438T>G	ENSP00000501616.1:n.*438T>G
ENST00000675165.1:c.770T>G	ENSP00000502612.1:p.Leu257Arg
ENST00000675220.1:c.446T>G	ENSP00000502588.1:p.Leu149Arg
ENST00000675265.1:c.*523T>G	ENSP00000501848.1:n.*523T>G
ENST00000675336.1:c.*259T>G	ENSP00000502120.1:n.*259T>G
ENST00000675376.1:c.446T>G	ENSP00000502838.1:p.Leu149Arg
ENST00000675463.1:c.851T>G	ENSP00000502327.1:p.Leu284Arg
ENST00000675472.1:c.*259T>G	ENSP00000501946.1:n.*259T>G
ENST00000675474.1:n.358T>G
ENST00000675560.1:c.*366+1010T>G	ENSP00000502118.1:n.*366+1010T>G
ENST00000675625.1:c.*445T>G	ENSP00000501626.1:n.*445T>G
ENST00000675633.1:c.*180T>G	ENSP00000501785.1:n.*180T>G
ENST00000675661.1:c.*533T>G	ENSP00000501958.1:n.*533T>G
ENST00000675706.1:n.2731T>G
ENST00000675821.1:c.446T>G	ENSP00000502198.1:p.Leu149Arg
ENST00000675832.1:c.*445T>G	ENSP00000502041.1:n.*445T>G
ENST00000675928.1:c.599T>G	ENSP00000501568.1:p.Leu200Arg
ENST00000675944.1:c.569T>G	ENSP00000502673.1:p.Leu190Arg
ENST00000675999.1:c.694+1010T>G	ENSP00000502572.1:n.694+1010T>G
ENST00000676049.1:c.*675T>G	ENSP00000501912.1:n.*675T>G
ENST00000676112.1:c.839T>G	ENSP00000502295.1:p.Leu280Arg
ENST00000676143.1:c.446T>G	ENSP00000502828.1:p.Leu149Arg
ENST00000676207.1:c.694+1010T>G	ENSP00000502638.1:n.694+1010T>G
ENST00000676377.1:c.446T>G	ENSP00000502756.1:p.Leu149Arg
ENST00000676415.1:c.*79T>G	ENSP00000502665.1:n.*79T>G
ENST00000676443.1:c.725T>G	ENSP00000501769.1:p.Leu242Arg
ENST00000220822.11:c.773T>G	ENSP00000220822.7:p.Leu258Arg
ENST00000434412.2:c.569T>G	ENSP00000417006.2:p.Leu190Arg
ENST00000520797.5:n.538T>G
ENST00000521096.5:n.579T>G
ENST00000522568.1:c.*445T>G	ENSP00000430136.1:n.*445T>G
ENST00000524195.1:n.103+1010T>G
NM_001040875.2:c.569T>G	NP_001035808.1:p.Leu190Arg
NM_018972.2:c.773T>G	NP_061845.2:p.Leu258Arg
NR_046346.1:n.707T>G
XM_011517551.1:c.1067T>G	XP_011515853.1:p.Leu356Arg
XM_011517552.1:c.446T>G	XP_011515854.1:p.Leu149Arg
NM_001040875.3:c.569T>G	NP_001035808.1:p.Leu190Arg
NM_001362929.1:c.446T>G	NP_001349858.1:p.Leu149Arg
NM_001362930.1:c.599T>G	NP_001349859.1:p.Leu200Arg
NM_001362931.1:c.694+1010T>G	NP_001349860.1:n.694+1010T>G
NM_001362932.1:c.446T>G	NP_001349861.1:p.Leu149Arg
NM_018972.3:c.773T>G	NP_061845.2:p.Leu258Arg
NM_001362931.2:c.694+1010T>G	NP_001349860.1:n.694+1010T>G
NM_018972.4:c.773T>G MANE Select	NP_061845.2:p.Leu258Arg
NM_001040875.4:c.569T>G	NP_001035808.1:p.Leu190Arg
NM_001362929.2:c.446T>G	NP_001349858.1:p.Leu149Arg
NM_001362930.2:c.599T>G	NP_001349859.1:p.Leu200Arg
NM_001362932.2:c.446T>G	NP_001349861.1:p.Leu149Arg