Canonical Allele Identifier: CA253046

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 4204
• ClinVar RCV Id: RCV000004424 ; RCV003447067
• dbSNP Id: rs267606842
• MyVariant Identifiers: chr8:g.75275272A>T (hg19) ; chr8:g.74363037A>T (hg38)
• PubMed: PMID:20685671

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74363037A>T , CM000670.2:g.74363037A>T	GRCh38
NC_000008.10:g.75275272A>T , CM000670.1:g.75275272A>T	GRCh37
NC_000008.9:g.75437827A>T	NCBI36
NG_008787.2:g.46908A>T
NG_008787.3:g.46908A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.678A>T MANE Select	ENSP00000220822.7:p.Arg226Ser
ENST00000434412.3:c.546A>T	ENSP00000417006.3:p.Arg182Ser
ENST00000520797.6:n.789A>T
ENST00000521096.6:n.534A>T
ENST00000522568.2:c.*350A>T	ENSP00000430136.1:n.*350A>T
ENST00000523640.2:c.165+11716A>T	ENSP00000502017.1:n.165+11716A>T
ENST00000524195.2:c.264A>T	ENSP00000502308.1:p.Arg88Ser
ENST00000674612.1:c.351A>T	ENSP00000501864.1:p.Arg117Ser
ENST00000674710.1:c.678A>T	ENSP00000502762.1:p.Arg226Ser
ENST00000674754.1:c.*1310A>T	ENSP00000502063.1:n.*1310A>T
ENST00000674756.1:c.*350A>T	ENSP00000501860.1:n.*350A>T
ENST00000674806.1:c.351A>T	ENSP00000502637.1:p.Arg117Ser
ENST00000674865.1:c.474A>T	ENSP00000502437.1:p.Arg158Ser
ENST00000674926.1:c.*1310A>T	ENSP00000501799.1:n.*1310A>T
ENST00000674934.1:c.*366A>T	ENSP00000502187.1:n.*366A>T
ENST00000674944.1:c.*350A>T	ENSP00000501858.1:n.*350A>T
ENST00000674946.1:c.678A>T	ENSP00000501569.1:p.Arg226Ser
ENST00000674973.1:c.372A>T	ENSP00000502447.1:p.Arg124Ser
ENST00000675007.1:c.*350A>T	ENSP00000502119.1:n.*350A>T
ENST00000675060.1:c.*343A>T	ENSP00000501616.1:n.*343A>T
ENST00000675165.1:c.678A>T	ENSP00000502612.1:p.Arg226Ser
ENST00000675220.1:c.351A>T	ENSP00000502588.1:p.Arg117Ser
ENST00000675265.1:c.*350A>T	ENSP00000501848.1:n.*350A>T
ENST00000675336.1:c.*164A>T	ENSP00000502120.1:n.*164A>T
ENST00000675376.1:c.351A>T	ENSP00000502838.1:p.Arg117Ser
ENST00000675463.1:c.678A>T	ENSP00000502327.1:p.Arg226Ser
ENST00000675472.1:c.*164A>T	ENSP00000501946.1:n.*164A>T
ENST00000675474.1:n.197A>T
ENST00000675560.1:c.*350A>T	ENSP00000502118.1:n.*350A>T
ENST00000675625.1:c.*350A>T	ENSP00000501626.1:n.*350A>T
ENST00000675633.1:c.*85A>T	ENSP00000501785.1:n.*85A>T
ENST00000675661.1:c.*438A>T	ENSP00000501958.1:n.*438A>T
ENST00000675706.1:n.1705A>T
ENST00000675821.1:c.351A>T	ENSP00000502198.1:p.Arg117Ser
ENST00000675832.1:c.*350A>T	ENSP00000502041.1:n.*350A>T
ENST00000675928.1:c.504A>T	ENSP00000501568.1:p.Arg168Ser
ENST00000675944.1:c.474A>T	ENSP00000502673.1:p.Arg158Ser
ENST00000675999.1:c.678A>T	ENSP00000502572.1:p.Arg226Ser
ENST00000676049.1:c.*580A>T	ENSP00000501912.1:n.*580A>T
ENST00000676112.1:c.678A>T	ENSP00000502295.1:p.Arg226Ser
ENST00000676143.1:c.351A>T	ENSP00000502828.1:p.Arg117Ser
ENST00000676207.1:c.678A>T	ENSP00000502638.1:p.Arg226Ser
ENST00000676377.1:c.351A>T	ENSP00000502756.1:p.Arg117Ser
ENST00000676415.1:c.678A>T	ENSP00000502665.1:p.Arg226Ser
ENST00000676443.1:c.630A>T	ENSP00000501769.1:p.Arg210Ser
ENST00000220822.11:c.678A>T	ENSP00000220822.7:p.Arg226Ser
ENST00000434412.2:c.474A>T	ENSP00000417006.2:p.Arg158Ser
ENST00000520797.5:n.443A>T
ENST00000521096.5:n.484A>T
ENST00000522568.1:c.*350A>T	ENSP00000430136.1:n.*350A>T
ENST00000524195.1:n.87A>T
ENST00000524366.5:n.522A>T
NM_001040875.2:c.474A>T	NP_001035808.1:p.Arg158Ser
NM_018972.2:c.678A>T	NP_061845.2:p.Arg226Ser
NR_046346.1:n.612A>T
XM_011517551.1:c.972A>T	XP_011515853.1:p.Arg324Ser
XM_011517552.1:c.351A>T	XP_011515854.1:p.Arg117Ser
NM_001040875.3:c.474A>T	NP_001035808.1:p.Arg158Ser
NM_001362929.1:c.351A>T	NP_001349858.1:p.Arg117Ser
NM_001362930.1:c.504A>T	NP_001349859.1:p.Arg168Ser
NM_001362931.1:c.678A>T	NP_001349860.1:p.Arg226Ser
NM_001362932.1:c.351A>T	NP_001349861.1:p.Arg117Ser
NM_018972.3:c.678A>T	NP_061845.2:p.Arg226Ser
NM_001362931.2:c.678A>T	NP_001349860.1:p.Arg226Ser
NM_018972.4:c.678A>T MANE Select	NP_061845.2:p.Arg226Ser
NM_001040875.4:c.474A>T	NP_001035808.1:p.Arg158Ser
NM_001362929.2:c.351A>T	NP_001349858.1:p.Arg117Ser
NM_001362930.2:c.504A>T	NP_001349859.1:p.Arg168Ser
NM_001362932.2:c.351A>T	NP_001349861.1:p.Arg117Ser