Canonical Allele Identifier: CA371549920

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 2440446
• ClinVar RCV Id: RCV003145827
• dbSNP Id: rs367790253
• gnomAD v2: 8-75276245-C-A
• gnomAD v4: 8-74364010-C-A
• MyVariant Identifiers: chr8:g.75276245C>A (hg19) ; chr8:g.74364010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364010C>A , CM000670.2:g.74364010C>A	GRCh38
NC_000008.10:g.75276245C>A , CM000670.1:g.75276245C>A	GRCh37
NC_000008.9:g.75438800C>A	NCBI36
NG_008787.2:g.47881C>A
NG_008787.3:g.47881C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.720C>A MANE Select	ENSP00000220822.7:p.Cys240Ter
ENST00000434412.3:c.588C>A	ENSP00000417006.3:p.Cys196Ter
ENST00000520797.6:n.831C>A
ENST00000521096.6:n.576C>A
ENST00000522568.2:c.*392C>A	ENSP00000430136.1:n.*392C>A
ENST00000523640.2:c.165+12689C>A	ENSP00000502017.1:n.165+12689C>A
ENST00000524195.2:c.280+957C>A	ENSP00000502308.1:n.280+957C>A
ENST00000674612.1:c.393C>A	ENSP00000501864.1:p.Cys131Ter
ENST00000674710.1:c.694+957C>A	ENSP00000502762.1:n.694+957C>A
ENST00000674754.1:c.*2283C>A	ENSP00000502063.1:n.*2283C>A
ENST00000674756.1:c.*366+957C>A	ENSP00000501860.1:n.*366+957C>A
ENST00000674806.1:c.393C>A	ENSP00000502637.1:p.Cys131Ter
ENST00000674865.1:c.516C>A	ENSP00000502437.1:p.Cys172Ter
ENST00000674926.1:c.*1352C>A	ENSP00000501799.1:n.*1352C>A
ENST00000674934.1:c.*408C>A	ENSP00000502187.1:n.*408C>A
ENST00000674944.1:c.*1323C>A	ENSP00000501858.1:n.*1323C>A
ENST00000674946.1:c.694+957C>A	ENSP00000501569.1:n.694+957C>A
ENST00000674973.1:c.414C>A	ENSP00000502447.1:p.Cys138Ter
ENST00000675007.1:c.*458C>A	ENSP00000502119.1:n.*458C>A
ENST00000675060.1:c.*385C>A	ENSP00000501616.1:n.*385C>A
ENST00000675165.1:c.717C>A	ENSP00000502612.1:p.Cys239Ter
ENST00000675220.1:c.393C>A	ENSP00000502588.1:p.Cys131Ter
ENST00000675265.1:c.*470C>A	ENSP00000501848.1:n.*470C>A
ENST00000675336.1:c.*206C>A	ENSP00000502120.1:n.*206C>A
ENST00000675376.1:c.393C>A	ENSP00000502838.1:p.Cys131Ter
ENST00000675463.1:c.798C>A	ENSP00000502327.1:p.Cys266Ter
ENST00000675472.1:c.*206C>A	ENSP00000501946.1:n.*206C>A
ENST00000675474.1:n.305C>A
ENST00000675560.1:c.*366+957C>A	ENSP00000502118.1:n.*366+957C>A
ENST00000675625.1:c.*392C>A	ENSP00000501626.1:n.*392C>A
ENST00000675633.1:c.*127C>A	ENSP00000501785.1:n.*127C>A
ENST00000675661.1:c.*480C>A	ENSP00000501958.1:n.*480C>A
ENST00000675706.1:n.2678C>A
ENST00000675821.1:c.393C>A	ENSP00000502198.1:p.Cys131Ter
ENST00000675832.1:c.*392C>A	ENSP00000502041.1:n.*392C>A
ENST00000675928.1:c.546C>A	ENSP00000501568.1:p.Cys182Ter
ENST00000675944.1:c.516C>A	ENSP00000502673.1:p.Cys172Ter
ENST00000675999.1:c.694+957C>A	ENSP00000502572.1:n.694+957C>A
ENST00000676049.1:c.*622C>A	ENSP00000501912.1:n.*622C>A
ENST00000676112.1:c.786C>A	ENSP00000502295.1:p.Cys262Ter
ENST00000676143.1:c.393C>A	ENSP00000502828.1:p.Cys131Ter
ENST00000676207.1:c.694+957C>A	ENSP00000502638.1:n.694+957C>A
ENST00000676377.1:c.393C>A	ENSP00000502756.1:p.Cys131Ter
ENST00000676415.1:c.*26C>A	ENSP00000502665.1:n.*26C>A
ENST00000676443.1:c.672C>A	ENSP00000501769.1:p.Cys224Ter
ENST00000220822.11:c.720C>A	ENSP00000220822.7:p.Cys240Ter
ENST00000434412.2:c.516C>A	ENSP00000417006.2:p.Cys172Ter
ENST00000520797.5:n.485C>A
ENST00000521096.5:n.526C>A
ENST00000522568.1:c.*392C>A	ENSP00000430136.1:n.*392C>A
ENST00000524195.1:n.103+957C>A
ENST00000524366.5:n.564C>A
NM_001040875.2:c.516C>A	NP_001035808.1:p.Cys172Ter
NM_018972.2:c.720C>A	NP_061845.2:p.Cys240Ter
NR_046346.1:n.654C>A
XM_011517551.1:c.1014C>A	XP_011515853.1:p.Cys338Ter
XM_011517552.1:c.393C>A	XP_011515854.1:p.Cys131Ter
NM_001040875.3:c.516C>A	NP_001035808.1:p.Cys172Ter
NM_001362929.1:c.393C>A	NP_001349858.1:p.Cys131Ter
NM_001362930.1:c.546C>A	NP_001349859.1:p.Cys182Ter
NM_001362931.1:c.694+957C>A	NP_001349860.1:n.694+957C>A
NM_001362932.1:c.393C>A	NP_001349861.1:p.Cys131Ter
NM_018972.3:c.720C>A	NP_061845.2:p.Cys240Ter
NM_001362931.2:c.694+957C>A	NP_001349860.1:n.694+957C>A
NM_018972.4:c.720C>A MANE Select	NP_061845.2:p.Cys240Ter
NM_001040875.4:c.516C>A	NP_001035808.1:p.Cys172Ter
NM_001362929.2:c.393C>A	NP_001349858.1:p.Cys131Ter
NM_001362930.2:c.546C>A	NP_001349859.1:p.Cys182Ter
NM_001362932.2:c.393C>A	NP_001349861.1:p.Cys131Ter