Canonical Allele Identifier: CA371549833

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 467768
• ClinVar RCV Id: RCV000542442
• dbSNP Id: rs1554548334
• MyVariant Identifiers: chr8:g.75276228C>T (hg19) ; chr8:g.74363993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74363993C>T , CM000670.2:g.74363993C>T	GRCh38
NC_000008.10:g.75276228C>T , CM000670.1:g.75276228C>T	GRCh37
NC_000008.9:g.75438783C>T	NCBI36
NG_008787.2:g.47864C>T
NG_008787.3:g.47864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.703C>T MANE Select	ENSP00000220822.7:p.Gln235Ter
ENST00000434412.3:c.571C>T	ENSP00000417006.3:p.Gln191Ter
ENST00000520797.6:n.814C>T
ENST00000521096.6:n.559C>T
ENST00000522568.2:c.*375C>T	ENSP00000430136.1:n.*375C>T
ENST00000523640.2:c.165+12672C>T	ENSP00000502017.1:n.165+12672C>T
ENST00000524195.2:c.280+940C>T	ENSP00000502308.1:n.280+940C>T
ENST00000674612.1:c.376C>T	ENSP00000501864.1:p.Gln126Ter
ENST00000674710.1:c.694+940C>T	ENSP00000502762.1:n.694+940C>T
ENST00000674754.1:c.*2266C>T	ENSP00000502063.1:n.*2266C>T
ENST00000674756.1:c.*366+940C>T	ENSP00000501860.1:n.*366+940C>T
ENST00000674806.1:c.376C>T	ENSP00000502637.1:p.Gln126Ter
ENST00000674865.1:c.499C>T	ENSP00000502437.1:p.Gln167Ter
ENST00000674926.1:c.*1335C>T	ENSP00000501799.1:n.*1335C>T
ENST00000674934.1:c.*391C>T	ENSP00000502187.1:n.*391C>T
ENST00000674944.1:c.*1306C>T	ENSP00000501858.1:n.*1306C>T
ENST00000674946.1:c.694+940C>T	ENSP00000501569.1:n.694+940C>T
ENST00000674973.1:c.397C>T	ENSP00000502447.1:p.Gln133Ter
ENST00000675007.1:c.*441C>T	ENSP00000502119.1:n.*441C>T
ENST00000675060.1:c.*368C>T	ENSP00000501616.1:n.*368C>T
ENST00000675165.1:c.700C>T	ENSP00000502612.1:p.Gln234Ter
ENST00000675220.1:c.376C>T	ENSP00000502588.1:p.Gln126Ter
ENST00000675265.1:c.*453C>T	ENSP00000501848.1:n.*453C>T
ENST00000675336.1:c.*189C>T	ENSP00000502120.1:n.*189C>T
ENST00000675376.1:c.376C>T	ENSP00000502838.1:p.Gln126Ter
ENST00000675463.1:c.781C>T	ENSP00000502327.1:p.Gln261Ter
ENST00000675472.1:c.*189C>T	ENSP00000501946.1:n.*189C>T
ENST00000675474.1:n.288C>T
ENST00000675560.1:c.*366+940C>T	ENSP00000502118.1:n.*366+940C>T
ENST00000675625.1:c.*375C>T	ENSP00000501626.1:n.*375C>T
ENST00000675633.1:c.*110C>T	ENSP00000501785.1:n.*110C>T
ENST00000675661.1:c.*463C>T	ENSP00000501958.1:n.*463C>T
ENST00000675706.1:n.2661C>T
ENST00000675821.1:c.376C>T	ENSP00000502198.1:p.Gln126Ter
ENST00000675832.1:c.*375C>T	ENSP00000502041.1:n.*375C>T
ENST00000675928.1:c.529C>T	ENSP00000501568.1:p.Gln177Ter
ENST00000675944.1:c.499C>T	ENSP00000502673.1:p.Gln167Ter
ENST00000675999.1:c.694+940C>T	ENSP00000502572.1:n.694+940C>T
ENST00000676049.1:c.*605C>T	ENSP00000501912.1:n.*605C>T
ENST00000676112.1:c.769C>T	ENSP00000502295.1:p.Gln257Ter
ENST00000676143.1:c.376C>T	ENSP00000502828.1:p.Gln126Ter
ENST00000676207.1:c.694+940C>T	ENSP00000502638.1:n.694+940C>T
ENST00000676377.1:c.376C>T	ENSP00000502756.1:p.Gln126Ter
ENST00000676415.1:c.*9C>T	ENSP00000502665.1:n.*9C>T
ENST00000676443.1:c.655C>T	ENSP00000501769.1:p.Gln219Ter
ENST00000220822.11:c.703C>T	ENSP00000220822.7:p.Gln235Ter
ENST00000434412.2:c.499C>T	ENSP00000417006.2:p.Gln167Ter
ENST00000520797.5:n.468C>T
ENST00000521096.5:n.509C>T
ENST00000522568.1:c.*375C>T	ENSP00000430136.1:n.*375C>T
ENST00000524195.1:n.103+940C>T
ENST00000524366.5:n.547C>T
NM_001040875.2:c.499C>T	NP_001035808.1:p.Gln167Ter
NM_018972.2:c.703C>T	NP_061845.2:p.Gln235Ter
NR_046346.1:n.637C>T
XM_011517551.1:c.997C>T	XP_011515853.1:p.Gln333Ter
XM_011517552.1:c.376C>T	XP_011515854.1:p.Gln126Ter
NM_001040875.3:c.499C>T	NP_001035808.1:p.Gln167Ter
NM_001362929.1:c.376C>T	NP_001349858.1:p.Gln126Ter
NM_001362930.1:c.529C>T	NP_001349859.1:p.Gln177Ter
NM_001362931.1:c.694+940C>T	NP_001349860.1:n.694+940C>T
NM_001362932.1:c.376C>T	NP_001349861.1:p.Gln126Ter
NM_018972.3:c.703C>T	NP_061845.2:p.Gln235Ter
NM_001362931.2:c.694+940C>T	NP_001349860.1:n.694+940C>T
NM_018972.4:c.703C>T MANE Select	NP_061845.2:p.Gln235Ter
NM_001040875.4:c.499C>T	NP_001035808.1:p.Gln167Ter
NM_001362929.2:c.376C>T	NP_001349858.1:p.Gln126Ter
NM_001362930.2:c.529C>T	NP_001349859.1:p.Gln177Ter
NM_001362932.2:c.376C>T	NP_001349861.1:p.Gln126Ter