Canonical Allele Identifier: CA371550336

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 2627522
• ClinVar RCV Id: RCV003388785
• MyVariant Identifiers: chr8:g.75276352T>G (hg19) ; chr8:g.74364117T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364117T>G , CM000670.2:g.74364117T>G	GRCh38
NC_000008.10:g.75276352T>G , CM000670.1:g.75276352T>G	GRCh37
NC_000008.9:g.75438907T>G	NCBI36
NG_008787.2:g.47988T>G
NG_008787.3:g.47988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.827T>G MANE Select	ENSP00000220822.7:p.Leu276Trp
ENST00000434412.3:c.695T>G	ENSP00000417006.3:p.Leu232Trp
ENST00000520797.6:n.938T>G
ENST00000521096.6:n.683T>G
ENST00000522568.2:c.*499T>G	ENSP00000430136.1:n.*499T>G
ENST00000523640.2:c.165+12796T>G	ENSP00000502017.1:n.165+12796T>G
ENST00000524195.2:c.280+1064T>G	ENSP00000502308.1:n.280+1064T>G
ENST00000674612.1:c.500T>G	ENSP00000501864.1:p.Leu167Trp
ENST00000674710.1:c.694+1064T>G	ENSP00000502762.1:n.694+1064T>G
ENST00000674754.1:c.*2390T>G	ENSP00000502063.1:n.*2390T>G
ENST00000674756.1:c.*366+1064T>G	ENSP00000501860.1:n.*366+1064T>G
ENST00000674806.1:c.500T>G	ENSP00000502637.1:p.Leu167Trp
ENST00000674865.1:c.623T>G	ENSP00000502437.1:p.Leu208Trp
ENST00000674926.1:c.*1459T>G	ENSP00000501799.1:n.*1459T>G
ENST00000674934.1:c.*515T>G	ENSP00000502187.1:n.*515T>G
ENST00000674944.1:c.*1430T>G	ENSP00000501858.1:n.*1430T>G
ENST00000674946.1:c.694+1064T>G	ENSP00000501569.1:n.694+1064T>G
ENST00000674973.1:c.521T>G	ENSP00000502447.1:p.Leu174Trp
ENST00000675007.1:c.*565T>G	ENSP00000502119.1:n.*565T>G
ENST00000675060.1:c.*492T>G	ENSP00000501616.1:n.*492T>G
ENST00000675165.1:c.824T>G	ENSP00000502612.1:p.Leu275Trp
ENST00000675220.1:c.500T>G	ENSP00000502588.1:p.Leu167Trp
ENST00000675265.1:c.*577T>G	ENSP00000501848.1:n.*577T>G
ENST00000675336.1:c.*313T>G	ENSP00000502120.1:n.*313T>G
ENST00000675376.1:c.500T>G	ENSP00000502838.1:p.Leu167Trp
ENST00000675463.1:c.905T>G	ENSP00000502327.1:p.Leu302Trp
ENST00000675472.1:c.*313T>G	ENSP00000501946.1:n.*313T>G
ENST00000675474.1:n.412T>G
ENST00000675560.1:c.*366+1064T>G	ENSP00000502118.1:n.*366+1064T>G
ENST00000675625.1:c.*499T>G	ENSP00000501626.1:n.*499T>G
ENST00000675633.1:c.*234T>G	ENSP00000501785.1:n.*234T>G
ENST00000675661.1:c.*587T>G	ENSP00000501958.1:n.*587T>G
ENST00000675706.1:n.2785T>G
ENST00000675821.1:c.500T>G	ENSP00000502198.1:p.Leu167Trp
ENST00000675832.1:c.*499T>G	ENSP00000502041.1:n.*499T>G
ENST00000675928.1:c.653T>G	ENSP00000501568.1:p.Leu218Trp
ENST00000675944.1:c.623T>G	ENSP00000502673.1:p.Leu208Trp
ENST00000675999.1:c.694+1064T>G	ENSP00000502572.1:n.694+1064T>G
ENST00000676049.1:c.*729T>G	ENSP00000501912.1:n.*729T>G
ENST00000676112.1:c.893T>G	ENSP00000502295.1:p.Leu298Trp
ENST00000676143.1:c.500T>G	ENSP00000502828.1:p.Leu167Trp
ENST00000676207.1:c.694+1064T>G	ENSP00000502638.1:n.694+1064T>G
ENST00000676377.1:c.500T>G	ENSP00000502756.1:p.Leu167Trp
ENST00000676415.1:c.*133T>G	ENSP00000502665.1:n.*133T>G
ENST00000676443.1:c.779T>G	ENSP00000501769.1:p.Leu260Trp
ENST00000220822.11:c.827T>G	ENSP00000220822.7:p.Leu276Trp
ENST00000434412.2:c.623T>G	ENSP00000417006.2:p.Leu208Trp
ENST00000520797.5:n.592T>G
ENST00000521096.5:n.633T>G
ENST00000522568.1:c.*499T>G	ENSP00000430136.1:n.*499T>G
ENST00000524195.1:n.103+1064T>G
NM_001040875.2:c.623T>G	NP_001035808.1:p.Leu208Trp
NM_018972.2:c.827T>G	NP_061845.2:p.Leu276Trp
NR_046346.1:n.761T>G
XM_011517551.1:c.1121T>G	XP_011515853.1:p.Leu374Trp
XM_011517552.1:c.500T>G	XP_011515854.1:p.Leu167Trp
NM_001040875.3:c.623T>G	NP_001035808.1:p.Leu208Trp
NM_001362929.1:c.500T>G	NP_001349858.1:p.Leu167Trp
NM_001362930.1:c.653T>G	NP_001349859.1:p.Leu218Trp
NM_001362931.1:c.694+1064T>G	NP_001349860.1:n.694+1064T>G
NM_001362932.1:c.500T>G	NP_001349861.1:p.Leu167Trp
NM_018972.3:c.827T>G	NP_061845.2:p.Leu276Trp
NM_001362931.2:c.694+1064T>G	NP_001349860.1:n.694+1064T>G
NM_018972.4:c.827T>G MANE Select	NP_061845.2:p.Leu276Trp
NM_001040875.4:c.623T>G	NP_001035808.1:p.Leu208Trp
NM_001362929.2:c.500T>G	NP_001349858.1:p.Leu167Trp
NM_001362930.2:c.653T>G	NP_001349859.1:p.Leu218Trp
NM_001362932.2:c.500T>G	NP_001349861.1:p.Leu167Trp