Canonical Allele Identifier: CA371550340

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276353G>T (hg19) ; chr8:g.74364118G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364118G>T , CM000670.2:g.74364118G>T	GRCh38
NC_000008.10:g.75276353G>T , CM000670.1:g.75276353G>T	GRCh37
NC_000008.9:g.75438908G>T	NCBI36
NG_008787.2:g.47989G>T
NG_008787.3:g.47989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.828G>T MANE Select	ENSP00000220822.7:p.Leu276Phe
ENST00000434412.3:c.696G>T	ENSP00000417006.3:p.Leu232Phe
ENST00000520797.6:n.939G>T
ENST00000521096.6:n.684G>T
ENST00000522568.2:c.*500G>T	ENSP00000430136.1:n.*500G>T
ENST00000523640.2:c.165+12797G>T	ENSP00000502017.1:n.165+12797G>T
ENST00000524195.2:c.280+1065G>T	ENSP00000502308.1:n.280+1065G>T
ENST00000674612.1:c.501G>T	ENSP00000501864.1:p.Leu167Phe
ENST00000674710.1:c.694+1065G>T	ENSP00000502762.1:n.694+1065G>T
ENST00000674754.1:c.*2391G>T	ENSP00000502063.1:n.*2391G>T
ENST00000674756.1:c.*366+1065G>T	ENSP00000501860.1:n.*366+1065G>T
ENST00000674806.1:c.501G>T	ENSP00000502637.1:p.Leu167Phe
ENST00000674865.1:c.624G>T	ENSP00000502437.1:p.Leu208Phe
ENST00000674926.1:c.*1460G>T	ENSP00000501799.1:n.*1460G>T
ENST00000674934.1:c.*516G>T	ENSP00000502187.1:n.*516G>T
ENST00000674944.1:c.*1431G>T	ENSP00000501858.1:n.*1431G>T
ENST00000674946.1:c.694+1065G>T	ENSP00000501569.1:n.694+1065G>T
ENST00000674973.1:c.522G>T	ENSP00000502447.1:p.Leu174Phe
ENST00000675007.1:c.*566G>T	ENSP00000502119.1:n.*566G>T
ENST00000675060.1:c.*493G>T	ENSP00000501616.1:n.*493G>T
ENST00000675165.1:c.825G>T	ENSP00000502612.1:p.Leu275Phe
ENST00000675220.1:c.501G>T	ENSP00000502588.1:p.Leu167Phe
ENST00000675265.1:c.*578G>T	ENSP00000501848.1:n.*578G>T
ENST00000675336.1:c.*314G>T	ENSP00000502120.1:n.*314G>T
ENST00000675376.1:c.501G>T	ENSP00000502838.1:p.Leu167Phe
ENST00000675463.1:c.906G>T	ENSP00000502327.1:p.Leu302Phe
ENST00000675472.1:c.*314G>T	ENSP00000501946.1:n.*314G>T
ENST00000675474.1:n.413G>T
ENST00000675560.1:c.*366+1065G>T	ENSP00000502118.1:n.*366+1065G>T
ENST00000675625.1:c.*500G>T	ENSP00000501626.1:n.*500G>T
ENST00000675633.1:c.*235G>T	ENSP00000501785.1:n.*235G>T
ENST00000675661.1:c.*588G>T	ENSP00000501958.1:n.*588G>T
ENST00000675706.1:n.2786G>T
ENST00000675821.1:c.501G>T	ENSP00000502198.1:p.Leu167Phe
ENST00000675832.1:c.*500G>T	ENSP00000502041.1:n.*500G>T
ENST00000675928.1:c.654G>T	ENSP00000501568.1:p.Leu218Phe
ENST00000675944.1:c.624G>T	ENSP00000502673.1:p.Leu208Phe
ENST00000675999.1:c.694+1065G>T	ENSP00000502572.1:n.694+1065G>T
ENST00000676049.1:c.*730G>T	ENSP00000501912.1:n.*730G>T
ENST00000676112.1:c.894G>T	ENSP00000502295.1:p.Leu298Phe
ENST00000676143.1:c.501G>T	ENSP00000502828.1:p.Leu167Phe
ENST00000676207.1:c.694+1065G>T	ENSP00000502638.1:n.694+1065G>T
ENST00000676377.1:c.501G>T	ENSP00000502756.1:p.Leu167Phe
ENST00000676415.1:c.*134G>T	ENSP00000502665.1:n.*134G>T
ENST00000676443.1:c.780G>T	ENSP00000501769.1:p.Leu260Phe
ENST00000220822.11:c.828G>T	ENSP00000220822.7:p.Leu276Phe
ENST00000434412.2:c.624G>T	ENSP00000417006.2:p.Leu208Phe
ENST00000520797.5:n.593G>T
ENST00000521096.5:n.634G>T
ENST00000522568.1:c.*500G>T	ENSP00000430136.1:n.*500G>T
ENST00000524195.1:n.103+1065G>T
NM_001040875.2:c.624G>T	NP_001035808.1:p.Leu208Phe
NM_018972.2:c.828G>T	NP_061845.2:p.Leu276Phe
NR_046346.1:n.762G>T
XM_011517551.1:c.1122G>T	XP_011515853.1:p.Leu374Phe
XM_011517552.1:c.501G>T	XP_011515854.1:p.Leu167Phe
NM_001040875.3:c.624G>T	NP_001035808.1:p.Leu208Phe
NM_001362929.1:c.501G>T	NP_001349858.1:p.Leu167Phe
NM_001362930.1:c.654G>T	NP_001349859.1:p.Leu218Phe
NM_001362931.1:c.694+1065G>T	NP_001349860.1:n.694+1065G>T
NM_001362932.1:c.501G>T	NP_001349861.1:p.Leu167Phe
NM_018972.3:c.828G>T	NP_061845.2:p.Leu276Phe
NM_001362931.2:c.694+1065G>T	NP_001349860.1:n.694+1065G>T
NM_018972.4:c.828G>T MANE Select	NP_061845.2:p.Leu276Phe
NM_001040875.4:c.624G>T	NP_001035808.1:p.Leu208Phe
NM_001362929.2:c.501G>T	NP_001349858.1:p.Leu167Phe
NM_001362930.2:c.654G>T	NP_001349859.1:p.Leu218Phe
NM_001362932.2:c.501G>T	NP_001349861.1:p.Leu167Phe