Canonical Allele Identifier: CA461772256

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276236T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364001T>G , CM000670.2:g.74364001T>G	GRCh38
NC_000008.10:g.75276236T>G , CM000670.1:g.75276236T>G	GRCh37
NC_000008.9:g.75438791T>G	NCBI36
NG_008787.2:g.47872T>G
NG_008787.3:g.47872T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.711T>G MANE Select	ENSP00000220822.7:p.Pro237=
ENST00000434412.3:c.579T>G	ENSP00000417006.3:p.Pro193=
ENST00000520797.6:n.822T>G
ENST00000521096.6:n.567T>G
ENST00000522568.2:c.*383T>G	ENSP00000430136.1:n.*383T>G
ENST00000523640.2:c.165+12680T>G	ENSP00000502017.1:n.165+12680T>G
ENST00000524195.2:c.280+948T>G	ENSP00000502308.1:n.280+948T>G
ENST00000674612.1:c.384T>G	ENSP00000501864.1:p.Pro128=
ENST00000674710.1:c.694+948T>G	ENSP00000502762.1:n.694+948T>G
ENST00000674754.1:c.*2274T>G	ENSP00000502063.1:n.*2274T>G
ENST00000674756.1:c.*366+948T>G	ENSP00000501860.1:n.*366+948T>G
ENST00000674806.1:c.384T>G	ENSP00000502637.1:p.Pro128=
ENST00000674865.1:c.507T>G	ENSP00000502437.1:p.Pro169=
ENST00000674926.1:c.*1343T>G	ENSP00000501799.1:n.*1343T>G
ENST00000674934.1:c.*399T>G	ENSP00000502187.1:n.*399T>G
ENST00000674944.1:c.*1314T>G	ENSP00000501858.1:n.*1314T>G
ENST00000674946.1:c.694+948T>G	ENSP00000501569.1:n.694+948T>G
ENST00000674973.1:c.405T>G	ENSP00000502447.1:p.Pro135=
ENST00000675007.1:c.*449T>G	ENSP00000502119.1:n.*449T>G
ENST00000675060.1:c.*376T>G	ENSP00000501616.1:n.*376T>G
ENST00000675165.1:c.708T>G	ENSP00000502612.1:p.Pro236=
ENST00000675220.1:c.384T>G	ENSP00000502588.1:p.Pro128=
ENST00000675265.1:c.*461T>G	ENSP00000501848.1:n.*461T>G
ENST00000675336.1:c.*197T>G	ENSP00000502120.1:n.*197T>G
ENST00000675376.1:c.384T>G	ENSP00000502838.1:p.Pro128=
ENST00000675463.1:c.789T>G	ENSP00000502327.1:p.Pro263=
ENST00000675472.1:c.*197T>G	ENSP00000501946.1:n.*197T>G
ENST00000675474.1:n.296T>G
ENST00000675560.1:c.*366+948T>G	ENSP00000502118.1:n.*366+948T>G
ENST00000675625.1:c.*383T>G	ENSP00000501626.1:n.*383T>G
ENST00000675633.1:c.*118T>G	ENSP00000501785.1:n.*118T>G
ENST00000675661.1:c.*471T>G	ENSP00000501958.1:n.*471T>G
ENST00000675706.1:n.2669T>G
ENST00000675821.1:c.384T>G	ENSP00000502198.1:p.Pro128=
ENST00000675832.1:c.*383T>G	ENSP00000502041.1:n.*383T>G
ENST00000675928.1:c.537T>G	ENSP00000501568.1:p.Pro179=
ENST00000675944.1:c.507T>G	ENSP00000502673.1:p.Pro169=
ENST00000675999.1:c.694+948T>G	ENSP00000502572.1:n.694+948T>G
ENST00000676049.1:c.*613T>G	ENSP00000501912.1:n.*613T>G
ENST00000676112.1:c.777T>G	ENSP00000502295.1:p.Pro259=
ENST00000676143.1:c.384T>G	ENSP00000502828.1:p.Pro128=
ENST00000676207.1:c.694+948T>G	ENSP00000502638.1:n.694+948T>G
ENST00000676377.1:c.384T>G	ENSP00000502756.1:p.Pro128=
ENST00000676415.1:c.*17T>G	ENSP00000502665.1:n.*17T>G
ENST00000676443.1:c.663T>G	ENSP00000501769.1:p.Pro221=
ENST00000220822.11:c.711T>G	ENSP00000220822.7:p.Pro237=
ENST00000434412.2:c.507T>G	ENSP00000417006.2:p.Pro169=
ENST00000520797.5:n.476T>G
ENST00000521096.5:n.517T>G
ENST00000522568.1:c.*383T>G	ENSP00000430136.1:n.*383T>G
ENST00000524195.1:n.103+948T>G
ENST00000524366.5:n.555T>G
NM_001040875.2:c.507T>G	NP_001035808.1:p.Pro169=
NM_018972.2:c.711T>G	NP_061845.2:p.Pro237=
NR_046346.1:n.645T>G
XM_011517551.1:c.1005T>G	XP_011515853.1:p.Pro335=
XM_011517552.1:c.384T>G	XP_011515854.1:p.Pro128=
NM_001040875.3:c.507T>G	NP_001035808.1:p.Pro169=
NM_001362929.1:c.384T>G	NP_001349858.1:p.Pro128=
NM_001362930.1:c.537T>G	NP_001349859.1:p.Pro179=
NM_001362931.1:c.694+948T>G	NP_001349860.1:n.694+948T>G
NM_001362932.1:c.384T>G	NP_001349861.1:p.Pro128=
NM_018972.3:c.711T>G	NP_061845.2:p.Pro237=
NM_001362931.2:c.694+948T>G	NP_001349860.1:n.694+948T>G
NM_018972.4:c.711T>G MANE Select	NP_061845.2:p.Pro237=
NM_001040875.4:c.507T>G	NP_001035808.1:p.Pro169=
NM_001362929.2:c.384T>G	NP_001349858.1:p.Pro128=
NM_001362930.2:c.537T>G	NP_001349859.1:p.Pro179=
NM_001362932.2:c.384T>G	NP_001349861.1:p.Pro128=