Canonical Allele Identifier: CA371550156

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 467771
• ClinVar RCV Id: RCV000541075
• dbSNP Id: rs1425323007
• gnomAD v2: 8-75276295-G-A
• gnomAD v3: 8-74364060-G-A
• gnomAD v4: 8-74364060-G-A
• MyVariant Identifiers: chr8:g.75276295G>A (hg19) ; chr8:g.74364060G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364060G>A , CM000670.2:g.74364060G>A	GRCh38
NC_000008.10:g.75276295G>A , CM000670.1:g.75276295G>A	GRCh37
NC_000008.9:g.75438850G>A	NCBI36
NG_008787.2:g.47931G>A
NG_008787.3:g.47931G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.770G>A MANE Select	ENSP00000220822.7:p.Arg257Gln
ENST00000434412.3:c.638G>A	ENSP00000417006.3:p.Arg213Gln
ENST00000520797.6:n.881G>A
ENST00000521096.6:n.626G>A
ENST00000522568.2:c.*442G>A	ENSP00000430136.1:n.*442G>A
ENST00000523640.2:c.165+12739G>A	ENSP00000502017.1:n.165+12739G>A
ENST00000524195.2:c.280+1007G>A	ENSP00000502308.1:n.280+1007G>A
ENST00000674612.1:c.443G>A	ENSP00000501864.1:p.Arg148Gln
ENST00000674710.1:c.694+1007G>A	ENSP00000502762.1:n.694+1007G>A
ENST00000674754.1:c.*2333G>A	ENSP00000502063.1:n.*2333G>A
ENST00000674756.1:c.*366+1007G>A	ENSP00000501860.1:n.*366+1007G>A
ENST00000674806.1:c.443G>A	ENSP00000502637.1:p.Arg148Gln
ENST00000674865.1:c.566G>A	ENSP00000502437.1:p.Arg189Gln
ENST00000674926.1:c.*1402G>A	ENSP00000501799.1:n.*1402G>A
ENST00000674934.1:c.*458G>A	ENSP00000502187.1:n.*458G>A
ENST00000674944.1:c.*1373G>A	ENSP00000501858.1:n.*1373G>A
ENST00000674946.1:c.694+1007G>A	ENSP00000501569.1:n.694+1007G>A
ENST00000674973.1:c.464G>A	ENSP00000502447.1:p.Arg155Gln
ENST00000675007.1:c.*508G>A	ENSP00000502119.1:n.*508G>A
ENST00000675060.1:c.*435G>A	ENSP00000501616.1:n.*435G>A
ENST00000675165.1:c.767G>A	ENSP00000502612.1:p.Arg256Gln
ENST00000675220.1:c.443G>A	ENSP00000502588.1:p.Arg148Gln
ENST00000675265.1:c.*520G>A	ENSP00000501848.1:n.*520G>A
ENST00000675336.1:c.*256G>A	ENSP00000502120.1:n.*256G>A
ENST00000675376.1:c.443G>A	ENSP00000502838.1:p.Arg148Gln
ENST00000675463.1:c.848G>A	ENSP00000502327.1:p.Arg283Gln
ENST00000675472.1:c.*256G>A	ENSP00000501946.1:n.*256G>A
ENST00000675474.1:n.355G>A
ENST00000675560.1:c.*366+1007G>A	ENSP00000502118.1:n.*366+1007G>A
ENST00000675625.1:c.*442G>A	ENSP00000501626.1:n.*442G>A
ENST00000675633.1:c.*177G>A	ENSP00000501785.1:n.*177G>A
ENST00000675661.1:c.*530G>A	ENSP00000501958.1:n.*530G>A
ENST00000675706.1:n.2728G>A
ENST00000675821.1:c.443G>A	ENSP00000502198.1:p.Arg148Gln
ENST00000675832.1:c.*442G>A	ENSP00000502041.1:n.*442G>A
ENST00000675928.1:c.596G>A	ENSP00000501568.1:p.Arg199Gln
ENST00000675944.1:c.566G>A	ENSP00000502673.1:p.Arg189Gln
ENST00000675999.1:c.694+1007G>A	ENSP00000502572.1:n.694+1007G>A
ENST00000676049.1:c.*672G>A	ENSP00000501912.1:n.*672G>A
ENST00000676112.1:c.836G>A	ENSP00000502295.1:p.Arg279Gln
ENST00000676143.1:c.443G>A	ENSP00000502828.1:p.Arg148Gln
ENST00000676207.1:c.694+1007G>A	ENSP00000502638.1:n.694+1007G>A
ENST00000676377.1:c.443G>A	ENSP00000502756.1:p.Arg148Gln
ENST00000676415.1:c.*76G>A	ENSP00000502665.1:n.*76G>A
ENST00000676443.1:c.722G>A	ENSP00000501769.1:p.Arg241Gln
ENST00000220822.11:c.770G>A	ENSP00000220822.7:p.Arg257Gln
ENST00000434412.2:c.566G>A	ENSP00000417006.2:p.Arg189Gln
ENST00000520797.5:n.535G>A
ENST00000521096.5:n.576G>A
ENST00000522568.1:c.*442G>A	ENSP00000430136.1:n.*442G>A
ENST00000524195.1:n.103+1007G>A
NM_001040875.2:c.566G>A	NP_001035808.1:p.Arg189Gln
NM_018972.2:c.770G>A	NP_061845.2:p.Arg257Gln
NR_046346.1:n.704G>A
XM_011517551.1:c.1064G>A	XP_011515853.1:p.Arg355Gln
XM_011517552.1:c.443G>A	XP_011515854.1:p.Arg148Gln
NM_001040875.3:c.566G>A	NP_001035808.1:p.Arg189Gln
NM_001362929.1:c.443G>A	NP_001349858.1:p.Arg148Gln
NM_001362930.1:c.596G>A	NP_001349859.1:p.Arg199Gln
NM_001362931.1:c.694+1007G>A	NP_001349860.1:n.694+1007G>A
NM_001362932.1:c.443G>A	NP_001349861.1:p.Arg148Gln
NM_018972.3:c.770G>A	NP_061845.2:p.Arg257Gln
NM_001362931.2:c.694+1007G>A	NP_001349860.1:n.694+1007G>A
NM_018972.4:c.770G>A MANE Select	NP_061845.2:p.Arg257Gln
NM_001040875.4:c.566G>A	NP_001035808.1:p.Arg189Gln
NM_001362929.2:c.443G>A	NP_001349858.1:p.Arg148Gln
NM_001362930.2:c.596G>A	NP_001349859.1:p.Arg199Gln
NM_001362932.2:c.443G>A	NP_001349861.1:p.Arg148Gln