Canonical Allele Identifier: CA371550264

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276320G>T (hg19) ; chr8:g.74364085G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364085G>T , CM000670.2:g.74364085G>T	GRCh38
NC_000008.10:g.75276320G>T , CM000670.1:g.75276320G>T	GRCh37
NC_000008.9:g.75438875G>T	NCBI36
NG_008787.2:g.47956G>T
NG_008787.3:g.47956G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.795G>T MANE Select	ENSP00000220822.7:p.Arg265Ser
ENST00000434412.3:c.663G>T	ENSP00000417006.3:p.Arg221Ser
ENST00000520797.6:n.906G>T
ENST00000521096.6:n.651G>T
ENST00000522568.2:c.*467G>T	ENSP00000430136.1:n.*467G>T
ENST00000523640.2:c.165+12764G>T	ENSP00000502017.1:n.165+12764G>T
ENST00000524195.2:c.280+1032G>T	ENSP00000502308.1:n.280+1032G>T
ENST00000674612.1:c.468G>T	ENSP00000501864.1:p.Arg156Ser
ENST00000674710.1:c.694+1032G>T	ENSP00000502762.1:n.694+1032G>T
ENST00000674754.1:c.*2358G>T	ENSP00000502063.1:n.*2358G>T
ENST00000674756.1:c.*366+1032G>T	ENSP00000501860.1:n.*366+1032G>T
ENST00000674806.1:c.468G>T	ENSP00000502637.1:p.Arg156Ser
ENST00000674865.1:c.591G>T	ENSP00000502437.1:p.Arg197Ser
ENST00000674926.1:c.*1427G>T	ENSP00000501799.1:n.*1427G>T
ENST00000674934.1:c.*483G>T	ENSP00000502187.1:n.*483G>T
ENST00000674944.1:c.*1398G>T	ENSP00000501858.1:n.*1398G>T
ENST00000674946.1:c.694+1032G>T	ENSP00000501569.1:n.694+1032G>T
ENST00000674973.1:c.489G>T	ENSP00000502447.1:p.Arg163Ser
ENST00000675007.1:c.*533G>T	ENSP00000502119.1:n.*533G>T
ENST00000675060.1:c.*460G>T	ENSP00000501616.1:n.*460G>T
ENST00000675165.1:c.792G>T	ENSP00000502612.1:p.Arg264Ser
ENST00000675220.1:c.468G>T	ENSP00000502588.1:p.Arg156Ser
ENST00000675265.1:c.*545G>T	ENSP00000501848.1:n.*545G>T
ENST00000675336.1:c.*281G>T	ENSP00000502120.1:n.*281G>T
ENST00000675376.1:c.468G>T	ENSP00000502838.1:p.Arg156Ser
ENST00000675463.1:c.873G>T	ENSP00000502327.1:p.Arg291Ser
ENST00000675472.1:c.*281G>T	ENSP00000501946.1:n.*281G>T
ENST00000675474.1:n.380G>T
ENST00000675560.1:c.*366+1032G>T	ENSP00000502118.1:n.*366+1032G>T
ENST00000675625.1:c.*467G>T	ENSP00000501626.1:n.*467G>T
ENST00000675633.1:c.*202G>T	ENSP00000501785.1:n.*202G>T
ENST00000675661.1:c.*555G>T	ENSP00000501958.1:n.*555G>T
ENST00000675706.1:n.2753G>T
ENST00000675821.1:c.468G>T	ENSP00000502198.1:p.Arg156Ser
ENST00000675832.1:c.*467G>T	ENSP00000502041.1:n.*467G>T
ENST00000675928.1:c.621G>T	ENSP00000501568.1:p.Arg207Ser
ENST00000675944.1:c.591G>T	ENSP00000502673.1:p.Arg197Ser
ENST00000675999.1:c.694+1032G>T	ENSP00000502572.1:n.694+1032G>T
ENST00000676049.1:c.*697G>T	ENSP00000501912.1:n.*697G>T
ENST00000676112.1:c.861G>T	ENSP00000502295.1:p.Arg287Ser
ENST00000676143.1:c.468G>T	ENSP00000502828.1:p.Arg156Ser
ENST00000676207.1:c.694+1032G>T	ENSP00000502638.1:n.694+1032G>T
ENST00000676377.1:c.468G>T	ENSP00000502756.1:p.Arg156Ser
ENST00000676415.1:c.*101G>T	ENSP00000502665.1:n.*101G>T
ENST00000676443.1:c.747G>T	ENSP00000501769.1:p.Arg249Ser
ENST00000220822.11:c.795G>T	ENSP00000220822.7:p.Arg265Ser
ENST00000434412.2:c.591G>T	ENSP00000417006.2:p.Arg197Ser
ENST00000520797.5:n.560G>T
ENST00000521096.5:n.601G>T
ENST00000522568.1:c.*467G>T	ENSP00000430136.1:n.*467G>T
ENST00000524195.1:n.103+1032G>T
NM_001040875.2:c.591G>T	NP_001035808.1:p.Arg197Ser
NM_018972.2:c.795G>T	NP_061845.2:p.Arg265Ser
NR_046346.1:n.729G>T
XM_011517551.1:c.1089G>T	XP_011515853.1:p.Arg363Ser
XM_011517552.1:c.468G>T	XP_011515854.1:p.Arg156Ser
NM_001040875.3:c.591G>T	NP_001035808.1:p.Arg197Ser
NM_001362929.1:c.468G>T	NP_001349858.1:p.Arg156Ser
NM_001362930.1:c.621G>T	NP_001349859.1:p.Arg207Ser
NM_001362931.1:c.694+1032G>T	NP_001349860.1:n.694+1032G>T
NM_001362932.1:c.468G>T	NP_001349861.1:p.Arg156Ser
NM_018972.3:c.795G>T	NP_061845.2:p.Arg265Ser
NM_001362931.2:c.694+1032G>T	NP_001349860.1:n.694+1032G>T
NM_018972.4:c.795G>T MANE Select	NP_061845.2:p.Arg265Ser
NM_001040875.4:c.591G>T	NP_001035808.1:p.Arg197Ser
NM_001362929.2:c.468G>T	NP_001349858.1:p.Arg156Ser
NM_001362930.2:c.621G>T	NP_001349859.1:p.Arg207Ser
NM_001362932.2:c.468G>T	NP_001349861.1:p.Arg156Ser