Canonical Allele Identifier: CA371550461

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276406G>C (hg19) ; chr8:g.74364171G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364171G>C , CM000670.2:g.74364171G>C	GRCh38
NC_000008.10:g.75276406G>C , CM000670.1:g.75276406G>C	GRCh37
NC_000008.9:g.75438961G>C	NCBI36
NG_008787.2:g.48042G>C
NG_008787.3:g.48042G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.881G>C MANE Select	ENSP00000220822.7:p.Gly294Ala
ENST00000434412.3:c.749G>C	ENSP00000417006.3:p.Gly250Ala
ENST00000520797.6:n.992G>C
ENST00000521096.6:n.737G>C
ENST00000522568.2:c.*545+8G>C	ENSP00000430136.1:n.*545+8G>C
ENST00000523640.2:c.165+12850G>C	ENSP00000502017.1:n.165+12850G>C
ENST00000524195.2:c.280+1118G>C	ENSP00000502308.1:n.280+1118G>C
ENST00000674612.1:c.554G>C	ENSP00000501864.1:p.Gly185Ala
ENST00000674710.1:c.694+1118G>C	ENSP00000502762.1:n.694+1118G>C
ENST00000674754.1:c.*2444G>C	ENSP00000502063.1:n.*2444G>C
ENST00000674756.1:c.*366+1118G>C	ENSP00000501860.1:n.*366+1118G>C
ENST00000674806.1:c.554G>C	ENSP00000502637.1:p.Gly185Ala
ENST00000674865.1:c.677G>C	ENSP00000502437.1:p.Gly226Ala
ENST00000674926.1:c.*1513G>C	ENSP00000501799.1:n.*1513G>C
ENST00000674934.1:c.*569G>C	ENSP00000502187.1:n.*569G>C
ENST00000674944.1:c.*1484G>C	ENSP00000501858.1:n.*1484G>C
ENST00000674946.1:c.694+1118G>C	ENSP00000501569.1:n.694+1118G>C
ENST00000674973.1:c.575G>C	ENSP00000502447.1:p.Gly192Ala
ENST00000675007.1:c.*619G>C	ENSP00000502119.1:n.*619G>C
ENST00000675060.1:c.*546G>C	ENSP00000501616.1:n.*546G>C
ENST00000675165.1:c.878G>C	ENSP00000502612.1:p.Gly293Ala
ENST00000675220.1:c.554G>C	ENSP00000502588.1:p.Gly185Ala
ENST00000675265.1:c.*631G>C	ENSP00000501848.1:n.*631G>C
ENST00000675336.1:c.*367G>C	ENSP00000502120.1:n.*367G>C
ENST00000675376.1:c.554G>C	ENSP00000502838.1:p.Gly185Ala
ENST00000675463.1:c.959G>C	ENSP00000502327.1:p.Gly320Ala
ENST00000675472.1:c.*367G>C	ENSP00000501946.1:n.*367G>C
ENST00000675474.1:n.466G>C
ENST00000675560.1:c.*366+1118G>C	ENSP00000502118.1:n.*366+1118G>C
ENST00000675625.1:c.*553G>C	ENSP00000501626.1:n.*553G>C
ENST00000675633.1:c.*288G>C	ENSP00000501785.1:n.*288G>C
ENST00000675661.1:c.*641G>C	ENSP00000501958.1:n.*641G>C
ENST00000675706.1:n.2839G>C
ENST00000675821.1:c.554G>C	ENSP00000502198.1:p.Gly185Ala
ENST00000675832.1:c.*553G>C	ENSP00000502041.1:n.*553G>C
ENST00000675928.1:c.707G>C	ENSP00000501568.1:p.Gly236Ala
ENST00000675944.1:c.677G>C	ENSP00000502673.1:p.Gly226Ala
ENST00000675999.1:c.694+1118G>C	ENSP00000502572.1:n.694+1118G>C
ENST00000676049.1:c.*783G>C	ENSP00000501912.1:n.*783G>C
ENST00000676112.1:c.947G>C	ENSP00000502295.1:p.Gly316Ala
ENST00000676143.1:c.554G>C	ENSP00000502828.1:p.Gly185Ala
ENST00000676207.1:c.694+1118G>C	ENSP00000502638.1:n.694+1118G>C
ENST00000676377.1:c.554G>C	ENSP00000502756.1:p.Gly185Ala
ENST00000676415.1:c.*187G>C	ENSP00000502665.1:n.*187G>C
ENST00000676443.1:c.833G>C	ENSP00000501769.1:p.Gly278Ala
ENST00000220822.11:c.881G>C	ENSP00000220822.7:p.Gly294Ala
ENST00000434412.2:c.677G>C	ENSP00000417006.2:p.Gly226Ala
ENST00000520797.5:n.646G>C
ENST00000521096.5:n.687G>C
ENST00000522568.1:c.*553G>C	ENSP00000430136.1:n.*553G>C
ENST00000524195.1:n.103+1118G>C
NM_001040875.2:c.677G>C	NP_001035808.1:p.Gly226Ala
NM_018972.2:c.881G>C	NP_061845.2:p.Gly294Ala
NR_046346.1:n.815G>C
XM_011517551.1:c.1175G>C	XP_011515853.1:p.Gly392Ala
XM_011517552.1:c.554G>C	XP_011515854.1:p.Gly185Ala
NM_001040875.3:c.677G>C	NP_001035808.1:p.Gly226Ala
NM_001362929.1:c.554G>C	NP_001349858.1:p.Gly185Ala
NM_001362930.1:c.707G>C	NP_001349859.1:p.Gly236Ala
NM_001362931.1:c.694+1118G>C	NP_001349860.1:n.694+1118G>C
NM_001362932.1:c.554G>C	NP_001349861.1:p.Gly185Ala
NM_018972.3:c.881G>C	NP_061845.2:p.Gly294Ala
NM_001362931.2:c.694+1118G>C	NP_001349860.1:n.694+1118G>C
NM_018972.4:c.881G>C MANE Select	NP_061845.2:p.Gly294Ala
NM_001040875.4:c.677G>C	NP_001035808.1:p.Gly226Ala
NM_001362929.2:c.554G>C	NP_001349858.1:p.Gly185Ala
NM_001362930.2:c.707G>C	NP_001349859.1:p.Gly236Ala
NM_001362932.2:c.554G>C	NP_001349861.1:p.Gly185Ala