Canonical Allele Identifier: CA371550086

Gene: GDAP1

Linked Data

• dbSNP Id: rs1219262511
• gnomAD v2: 8-75276280-C-T
• gnomAD v4: 8-74364045-C-T
• MyVariant Identifiers: chr8:g.75276280C>T (hg19) ; chr8:g.74364045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364045C>T , CM000670.2:g.74364045C>T	GRCh38
NC_000008.10:g.75276280C>T , CM000670.1:g.75276280C>T	GRCh37
NC_000008.9:g.75438835C>T	NCBI36
NG_008787.2:g.47916C>T
NG_008787.3:g.47916C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.755C>T MANE Select	ENSP00000220822.7:p.Ala252Val
ENST00000434412.3:c.623C>T	ENSP00000417006.3:p.Ala208Val
ENST00000520797.6:n.866C>T
ENST00000521096.6:n.611C>T
ENST00000522568.2:c.*427C>T	ENSP00000430136.1:n.*427C>T
ENST00000523640.2:c.165+12724C>T	ENSP00000502017.1:n.165+12724C>T
ENST00000524195.2:c.280+992C>T	ENSP00000502308.1:n.280+992C>T
ENST00000674612.1:c.428C>T	ENSP00000501864.1:p.Ala143Val
ENST00000674710.1:c.694+992C>T	ENSP00000502762.1:n.694+992C>T
ENST00000674754.1:c.*2318C>T	ENSP00000502063.1:n.*2318C>T
ENST00000674756.1:c.*366+992C>T	ENSP00000501860.1:n.*366+992C>T
ENST00000674806.1:c.428C>T	ENSP00000502637.1:p.Ala143Val
ENST00000674865.1:c.551C>T	ENSP00000502437.1:p.Ala184Val
ENST00000674926.1:c.*1387C>T	ENSP00000501799.1:n.*1387C>T
ENST00000674934.1:c.*443C>T	ENSP00000502187.1:n.*443C>T
ENST00000674944.1:c.*1358C>T	ENSP00000501858.1:n.*1358C>T
ENST00000674946.1:c.694+992C>T	ENSP00000501569.1:n.694+992C>T
ENST00000674973.1:c.449C>T	ENSP00000502447.1:p.Ala150Val
ENST00000675007.1:c.*493C>T	ENSP00000502119.1:n.*493C>T
ENST00000675060.1:c.*420C>T	ENSP00000501616.1:n.*420C>T
ENST00000675165.1:c.752C>T	ENSP00000502612.1:p.Ala251Val
ENST00000675220.1:c.428C>T	ENSP00000502588.1:p.Ala143Val
ENST00000675265.1:c.*505C>T	ENSP00000501848.1:n.*505C>T
ENST00000675336.1:c.*241C>T	ENSP00000502120.1:n.*241C>T
ENST00000675376.1:c.428C>T	ENSP00000502838.1:p.Ala143Val
ENST00000675463.1:c.833C>T	ENSP00000502327.1:p.Ala278Val
ENST00000675472.1:c.*241C>T	ENSP00000501946.1:n.*241C>T
ENST00000675474.1:n.340C>T
ENST00000675560.1:c.*366+992C>T	ENSP00000502118.1:n.*366+992C>T
ENST00000675625.1:c.*427C>T	ENSP00000501626.1:n.*427C>T
ENST00000675633.1:c.*162C>T	ENSP00000501785.1:n.*162C>T
ENST00000675661.1:c.*515C>T	ENSP00000501958.1:n.*515C>T
ENST00000675706.1:n.2713C>T
ENST00000675821.1:c.428C>T	ENSP00000502198.1:p.Ala143Val
ENST00000675832.1:c.*427C>T	ENSP00000502041.1:n.*427C>T
ENST00000675928.1:c.581C>T	ENSP00000501568.1:p.Ala194Val
ENST00000675944.1:c.551C>T	ENSP00000502673.1:p.Ala184Val
ENST00000675999.1:c.694+992C>T	ENSP00000502572.1:n.694+992C>T
ENST00000676049.1:c.*657C>T	ENSP00000501912.1:n.*657C>T
ENST00000676112.1:c.821C>T	ENSP00000502295.1:p.Ala274Val
ENST00000676143.1:c.428C>T	ENSP00000502828.1:p.Ala143Val
ENST00000676207.1:c.694+992C>T	ENSP00000502638.1:n.694+992C>T
ENST00000676377.1:c.428C>T	ENSP00000502756.1:p.Ala143Val
ENST00000676415.1:c.*61C>T	ENSP00000502665.1:n.*61C>T
ENST00000676443.1:c.707C>T	ENSP00000501769.1:p.Ala236Val
ENST00000220822.11:c.755C>T	ENSP00000220822.7:p.Ala252Val
ENST00000434412.2:c.551C>T	ENSP00000417006.2:p.Ala184Val
ENST00000520797.5:n.520C>T
ENST00000521096.5:n.561C>T
ENST00000522568.1:c.*427C>T	ENSP00000430136.1:n.*427C>T
ENST00000524195.1:n.103+992C>T
NM_001040875.2:c.551C>T	NP_001035808.1:p.Ala184Val
NM_018972.2:c.755C>T	NP_061845.2:p.Ala252Val
NR_046346.1:n.689C>T
XM_011517551.1:c.1049C>T	XP_011515853.1:p.Ala350Val
XM_011517552.1:c.428C>T	XP_011515854.1:p.Ala143Val
NM_001040875.3:c.551C>T	NP_001035808.1:p.Ala184Val
NM_001362929.1:c.428C>T	NP_001349858.1:p.Ala143Val
NM_001362930.1:c.581C>T	NP_001349859.1:p.Ala194Val
NM_001362931.1:c.694+992C>T	NP_001349860.1:n.694+992C>T
NM_001362932.1:c.428C>T	NP_001349861.1:p.Ala143Val
NM_018972.3:c.755C>T	NP_061845.2:p.Ala252Val
NM_001362931.2:c.694+992C>T	NP_001349860.1:n.694+992C>T
NM_018972.4:c.755C>T MANE Select	NP_061845.2:p.Ala252Val
NM_001040875.4:c.551C>T	NP_001035808.1:p.Ala184Val
NM_001362929.2:c.428C>T	NP_001349858.1:p.Ala143Val
NM_001362930.2:c.581C>T	NP_001349859.1:p.Ala194Val
NM_001362932.2:c.428C>T	NP_001349861.1:p.Ala143Val