Canonical Allele Identifier: CA371550379

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276370G>T (hg19) ; chr8:g.74364135G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364135G>T , CM000670.2:g.74364135G>T	GRCh38
NC_000008.10:g.75276370G>T , CM000670.1:g.75276370G>T	GRCh37
NC_000008.9:g.75438925G>T	NCBI36
NG_008787.2:g.48006G>T
NG_008787.3:g.48006G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.845G>T MANE Select	ENSP00000220822.7:p.Arg282Leu
ENST00000434412.3:c.713G>T	ENSP00000417006.3:p.Arg238Leu
ENST00000520797.6:n.956G>T
ENST00000521096.6:n.701G>T
ENST00000522568.2:c.*517G>T	ENSP00000430136.1:n.*517G>T
ENST00000523640.2:c.165+12814G>T	ENSP00000502017.1:n.165+12814G>T
ENST00000524195.2:c.280+1082G>T	ENSP00000502308.1:n.280+1082G>T
ENST00000674612.1:c.518G>T	ENSP00000501864.1:p.Arg173Leu
ENST00000674710.1:c.694+1082G>T	ENSP00000502762.1:n.694+1082G>T
ENST00000674754.1:c.*2408G>T	ENSP00000502063.1:n.*2408G>T
ENST00000674756.1:c.*366+1082G>T	ENSP00000501860.1:n.*366+1082G>T
ENST00000674806.1:c.518G>T	ENSP00000502637.1:p.Arg173Leu
ENST00000674865.1:c.641G>T	ENSP00000502437.1:p.Arg214Leu
ENST00000674926.1:c.*1477G>T	ENSP00000501799.1:n.*1477G>T
ENST00000674934.1:c.*533G>T	ENSP00000502187.1:n.*533G>T
ENST00000674944.1:c.*1448G>T	ENSP00000501858.1:n.*1448G>T
ENST00000674946.1:c.694+1082G>T	ENSP00000501569.1:n.694+1082G>T
ENST00000674973.1:c.539G>T	ENSP00000502447.1:p.Arg180Leu
ENST00000675007.1:c.*583G>T	ENSP00000502119.1:n.*583G>T
ENST00000675060.1:c.*510G>T	ENSP00000501616.1:n.*510G>T
ENST00000675165.1:c.842G>T	ENSP00000502612.1:p.Arg281Leu
ENST00000675220.1:c.518G>T	ENSP00000502588.1:p.Arg173Leu
ENST00000675265.1:c.*595G>T	ENSP00000501848.1:n.*595G>T
ENST00000675336.1:c.*331G>T	ENSP00000502120.1:n.*331G>T
ENST00000675376.1:c.518G>T	ENSP00000502838.1:p.Arg173Leu
ENST00000675463.1:c.923G>T	ENSP00000502327.1:p.Arg308Leu
ENST00000675472.1:c.*331G>T	ENSP00000501946.1:n.*331G>T
ENST00000675474.1:n.430G>T
ENST00000675560.1:c.*366+1082G>T	ENSP00000502118.1:n.*366+1082G>T
ENST00000675625.1:c.*517G>T	ENSP00000501626.1:n.*517G>T
ENST00000675633.1:c.*252G>T	ENSP00000501785.1:n.*252G>T
ENST00000675661.1:c.*605G>T	ENSP00000501958.1:n.*605G>T
ENST00000675706.1:n.2803G>T
ENST00000675821.1:c.518G>T	ENSP00000502198.1:p.Arg173Leu
ENST00000675832.1:c.*517G>T	ENSP00000502041.1:n.*517G>T
ENST00000675928.1:c.671G>T	ENSP00000501568.1:p.Arg224Leu
ENST00000675944.1:c.641G>T	ENSP00000502673.1:p.Arg214Leu
ENST00000675999.1:c.694+1082G>T	ENSP00000502572.1:n.694+1082G>T
ENST00000676049.1:c.*747G>T	ENSP00000501912.1:n.*747G>T
ENST00000676112.1:c.911G>T	ENSP00000502295.1:p.Arg304Leu
ENST00000676143.1:c.518G>T	ENSP00000502828.1:p.Arg173Leu
ENST00000676207.1:c.694+1082G>T	ENSP00000502638.1:n.694+1082G>T
ENST00000676377.1:c.518G>T	ENSP00000502756.1:p.Arg173Leu
ENST00000676415.1:c.*151G>T	ENSP00000502665.1:n.*151G>T
ENST00000676443.1:c.797G>T	ENSP00000501769.1:p.Arg266Leu
ENST00000220822.11:c.845G>T	ENSP00000220822.7:p.Arg282Leu
ENST00000434412.2:c.641G>T	ENSP00000417006.2:p.Arg214Leu
ENST00000520797.5:n.610G>T
ENST00000521096.5:n.651G>T
ENST00000522568.1:c.*517G>T	ENSP00000430136.1:n.*517G>T
ENST00000524195.1:n.103+1082G>T
NM_001040875.2:c.641G>T	NP_001035808.1:p.Arg214Leu
NM_018972.2:c.845G>T	NP_061845.2:p.Arg282Leu
NR_046346.1:n.779G>T
XM_011517551.1:c.1139G>T	XP_011515853.1:p.Arg380Leu
XM_011517552.1:c.518G>T	XP_011515854.1:p.Arg173Leu
NM_001040875.3:c.641G>T	NP_001035808.1:p.Arg214Leu
NM_001362929.1:c.518G>T	NP_001349858.1:p.Arg173Leu
NM_001362930.1:c.671G>T	NP_001349859.1:p.Arg224Leu
NM_001362931.1:c.694+1082G>T	NP_001349860.1:n.694+1082G>T
NM_001362932.1:c.518G>T	NP_001349861.1:p.Arg173Leu
NM_018972.3:c.845G>T	NP_061845.2:p.Arg282Leu
NM_001362931.2:c.694+1082G>T	NP_001349860.1:n.694+1082G>T
NM_018972.4:c.845G>T MANE Select	NP_061845.2:p.Arg282Leu
NM_001040875.4:c.641G>T	NP_001035808.1:p.Arg214Leu
NM_001362929.2:c.518G>T	NP_001349858.1:p.Arg173Leu
NM_001362930.2:c.671G>T	NP_001349859.1:p.Arg224Leu
NM_001362932.2:c.518G>T	NP_001349861.1:p.Arg173Leu