Canonical Allele Identifier: CA371550291

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276329G>T (hg19) ; chr8:g.74364094G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364094G>T , CM000670.2:g.74364094G>T	GRCh38
NC_000008.10:g.75276329G>T , CM000670.1:g.75276329G>T	GRCh37
NC_000008.9:g.75438884G>T	NCBI36
NG_008787.2:g.47965G>T
NG_008787.3:g.47965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.804G>T MANE Select	ENSP00000220822.7:p.Trp268Cys
ENST00000434412.3:c.672G>T	ENSP00000417006.3:p.Trp224Cys
ENST00000520797.6:n.915G>T
ENST00000521096.6:n.660G>T
ENST00000522568.2:c.*476G>T	ENSP00000430136.1:n.*476G>T
ENST00000523640.2:c.165+12773G>T	ENSP00000502017.1:n.165+12773G>T
ENST00000524195.2:c.280+1041G>T	ENSP00000502308.1:n.280+1041G>T
ENST00000674612.1:c.477G>T	ENSP00000501864.1:p.Trp159Cys
ENST00000674710.1:c.694+1041G>T	ENSP00000502762.1:n.694+1041G>T
ENST00000674754.1:c.*2367G>T	ENSP00000502063.1:n.*2367G>T
ENST00000674756.1:c.*366+1041G>T	ENSP00000501860.1:n.*366+1041G>T
ENST00000674806.1:c.477G>T	ENSP00000502637.1:p.Trp159Cys
ENST00000674865.1:c.600G>T	ENSP00000502437.1:p.Trp200Cys
ENST00000674926.1:c.*1436G>T	ENSP00000501799.1:n.*1436G>T
ENST00000674934.1:c.*492G>T	ENSP00000502187.1:n.*492G>T
ENST00000674944.1:c.*1407G>T	ENSP00000501858.1:n.*1407G>T
ENST00000674946.1:c.694+1041G>T	ENSP00000501569.1:n.694+1041G>T
ENST00000674973.1:c.498G>T	ENSP00000502447.1:p.Trp166Cys
ENST00000675007.1:c.*542G>T	ENSP00000502119.1:n.*542G>T
ENST00000675060.1:c.*469G>T	ENSP00000501616.1:n.*469G>T
ENST00000675165.1:c.801G>T	ENSP00000502612.1:p.Trp267Cys
ENST00000675220.1:c.477G>T	ENSP00000502588.1:p.Trp159Cys
ENST00000675265.1:c.*554G>T	ENSP00000501848.1:n.*554G>T
ENST00000675336.1:c.*290G>T	ENSP00000502120.1:n.*290G>T
ENST00000675376.1:c.477G>T	ENSP00000502838.1:p.Trp159Cys
ENST00000675463.1:c.882G>T	ENSP00000502327.1:p.Trp294Cys
ENST00000675472.1:c.*290G>T	ENSP00000501946.1:n.*290G>T
ENST00000675474.1:n.389G>T
ENST00000675560.1:c.*366+1041G>T	ENSP00000502118.1:n.*366+1041G>T
ENST00000675625.1:c.*476G>T	ENSP00000501626.1:n.*476G>T
ENST00000675633.1:c.*211G>T	ENSP00000501785.1:n.*211G>T
ENST00000675661.1:c.*564G>T	ENSP00000501958.1:n.*564G>T
ENST00000675706.1:n.2762G>T
ENST00000675821.1:c.477G>T	ENSP00000502198.1:p.Trp159Cys
ENST00000675832.1:c.*476G>T	ENSP00000502041.1:n.*476G>T
ENST00000675928.1:c.630G>T	ENSP00000501568.1:p.Trp210Cys
ENST00000675944.1:c.600G>T	ENSP00000502673.1:p.Trp200Cys
ENST00000675999.1:c.694+1041G>T	ENSP00000502572.1:n.694+1041G>T
ENST00000676049.1:c.*706G>T	ENSP00000501912.1:n.*706G>T
ENST00000676112.1:c.870G>T	ENSP00000502295.1:p.Trp290Cys
ENST00000676143.1:c.477G>T	ENSP00000502828.1:p.Trp159Cys
ENST00000676207.1:c.694+1041G>T	ENSP00000502638.1:n.694+1041G>T
ENST00000676377.1:c.477G>T	ENSP00000502756.1:p.Trp159Cys
ENST00000676415.1:c.*110G>T	ENSP00000502665.1:n.*110G>T
ENST00000676443.1:c.756G>T	ENSP00000501769.1:p.Trp252Cys
ENST00000220822.11:c.804G>T	ENSP00000220822.7:p.Trp268Cys
ENST00000434412.2:c.600G>T	ENSP00000417006.2:p.Trp200Cys
ENST00000520797.5:n.569G>T
ENST00000521096.5:n.610G>T
ENST00000522568.1:c.*476G>T	ENSP00000430136.1:n.*476G>T
ENST00000524195.1:n.103+1041G>T
NM_001040875.2:c.600G>T	NP_001035808.1:p.Trp200Cys
NM_018972.2:c.804G>T	NP_061845.2:p.Trp268Cys
NR_046346.1:n.738G>T
XM_011517551.1:c.1098G>T	XP_011515853.1:p.Trp366Cys
XM_011517552.1:c.477G>T	XP_011515854.1:p.Trp159Cys
NM_001040875.3:c.600G>T	NP_001035808.1:p.Trp200Cys
NM_001362929.1:c.477G>T	NP_001349858.1:p.Trp159Cys
NM_001362930.1:c.630G>T	NP_001349859.1:p.Trp210Cys
NM_001362931.1:c.694+1041G>T	NP_001349860.1:n.694+1041G>T
NM_001362932.1:c.477G>T	NP_001349861.1:p.Trp159Cys
NM_018972.3:c.804G>T	NP_061845.2:p.Trp268Cys
NM_001362931.2:c.694+1041G>T	NP_001349860.1:n.694+1041G>T
NM_018972.4:c.804G>T MANE Select	NP_061845.2:p.Trp268Cys
NM_001040875.4:c.600G>T	NP_001035808.1:p.Trp200Cys
NM_001362929.2:c.477G>T	NP_001349858.1:p.Trp159Cys
NM_001362930.2:c.630G>T	NP_001349859.1:p.Trp210Cys
NM_001362932.2:c.477G>T	NP_001349861.1:p.Trp159Cys