Canonical Allele Identifier: CA461772816

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276515A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364280A>T , CM000670.2:g.74364280A>T	GRCh38
NC_000008.10:g.75276515A>T , CM000670.1:g.75276515A>T	GRCh37
NC_000008.9:g.75439070A>T	NCBI36
NG_008787.2:g.48151A>T
NG_008787.3:g.48151A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.990A>T MANE Select	ENSP00000220822.7:p.Ala330=
ENST00000434412.3:c.858A>T	ENSP00000417006.3:p.Ala286=
ENST00000520797.6:n.1101A>T
ENST00000521096.6:n.846A>T
ENST00000522568.2:c.*545+117A>T	ENSP00000430136.1:n.*545+117A>T
ENST00000523640.2:c.165+12959A>T	ENSP00000502017.1:n.165+12959A>T
ENST00000524195.2:c.280+1227A>T	ENSP00000502308.1:n.280+1227A>T
ENST00000674612.1:c.663A>T	ENSP00000501864.1:p.Ala221=
ENST00000674710.1:c.694+1227A>T	ENSP00000502762.1:n.694+1227A>T
ENST00000674754.1:c.*2553A>T	ENSP00000502063.1:n.*2553A>T
ENST00000674756.1:c.*366+1227A>T	ENSP00000501860.1:n.*366+1227A>T
ENST00000674806.1:c.663A>T	ENSP00000502637.1:p.Ala221=
ENST00000674865.1:c.786A>T	ENSP00000502437.1:p.Ala262=
ENST00000674926.1:c.*1622A>T	ENSP00000501799.1:n.*1622A>T
ENST00000674934.1:c.*678A>T	ENSP00000502187.1:n.*678A>T
ENST00000674944.1:c.*1593A>T	ENSP00000501858.1:n.*1593A>T
ENST00000674946.1:c.694+1227A>T	ENSP00000501569.1:n.694+1227A>T
ENST00000674973.1:c.684A>T	ENSP00000502447.1:p.Ala228=
ENST00000675007.1:c.*728A>T	ENSP00000502119.1:n.*728A>T
ENST00000675060.1:c.*655A>T	ENSP00000501616.1:n.*655A>T
ENST00000675165.1:c.987A>T	ENSP00000502612.1:p.Ala329=
ENST00000675220.1:c.663A>T	ENSP00000502588.1:p.Ala221=
ENST00000675265.1:c.*740A>T	ENSP00000501848.1:n.*740A>T
ENST00000675336.1:c.*476A>T	ENSP00000502120.1:n.*476A>T
ENST00000675376.1:c.663A>T	ENSP00000502838.1:p.Ala221=
ENST00000675463.1:c.1068A>T	ENSP00000502327.1:p.Ala356=
ENST00000675472.1:c.*476A>T	ENSP00000501946.1:n.*476A>T
ENST00000675474.1:n.575A>T
ENST00000675560.1:c.*366+1227A>T	ENSP00000502118.1:n.*366+1227A>T
ENST00000675625.1:c.*662A>T	ENSP00000501626.1:n.*662A>T
ENST00000675633.1:c.*397A>T	ENSP00000501785.1:n.*397A>T
ENST00000675661.1:c.*750A>T	ENSP00000501958.1:n.*750A>T
ENST00000675706.1:n.2948A>T
ENST00000675821.1:c.663A>T	ENSP00000502198.1:p.Ala221=
ENST00000675832.1:c.*662A>T	ENSP00000502041.1:n.*662A>T
ENST00000675928.1:c.816A>T	ENSP00000501568.1:p.Ala272=
ENST00000675944.1:c.786A>T	ENSP00000502673.1:p.Ala262=
ENST00000675999.1:c.694+1227A>T	ENSP00000502572.1:n.694+1227A>T
ENST00000676049.1:c.*892A>T	ENSP00000501912.1:n.*892A>T
ENST00000676112.1:c.1056A>T	ENSP00000502295.1:p.Ala352=
ENST00000676143.1:c.663A>T	ENSP00000502828.1:p.Ala221=
ENST00000676207.1:c.694+1227A>T	ENSP00000502638.1:n.694+1227A>T
ENST00000676377.1:c.663A>T	ENSP00000502756.1:p.Ala221=
ENST00000676415.1:c.*296A>T	ENSP00000502665.1:n.*296A>T
ENST00000676443.1:c.942A>T	ENSP00000501769.1:p.Ala314=
ENST00000220822.11:c.990A>T	ENSP00000220822.7:p.Ala330=
ENST00000434412.2:c.786A>T	ENSP00000417006.2:p.Ala262=
ENST00000521096.5:n.796A>T
ENST00000522568.1:c.*662A>T	ENSP00000430136.1:n.*662A>T
ENST00000524195.1:n.103+1227A>T
NM_001040875.2:c.786A>T	NP_001035808.1:p.Ala262=
NM_018972.2:c.990A>T	NP_061845.2:p.Ala330=
NR_046346.1:n.924A>T
XM_011517551.1:c.1284A>T	XP_011515853.1:p.Ala428=
XM_011517552.1:c.663A>T	XP_011515854.1:p.Ala221=
NM_001040875.3:c.786A>T	NP_001035808.1:p.Ala262=
NM_001362929.1:c.663A>T	NP_001349858.1:p.Ala221=
NM_001362930.1:c.816A>T	NP_001349859.1:p.Ala272=
NM_001362931.1:c.694+1227A>T	NP_001349860.1:n.694+1227A>T
NM_001362932.1:c.663A>T	NP_001349861.1:p.Ala221=
NM_018972.3:c.990A>T	NP_061845.2:p.Ala330=
NM_001362931.2:c.694+1227A>T	NP_001349860.1:n.694+1227A>T
NM_018972.4:c.990A>T MANE Select	NP_061845.2:p.Ala330=
NM_001040875.4:c.786A>T	NP_001035808.1:p.Ala262=
NM_001362929.2:c.663A>T	NP_001349858.1:p.Ala221=
NM_001362930.2:c.816A>T	NP_001349859.1:p.Ala272=
NM_001362932.2:c.663A>T	NP_001349861.1:p.Ala221=