Canonical Allele Identifier: CA371549935

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276247G>C (hg19) ; chr8:g.74364012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364012G>C , CM000670.2:g.74364012G>C	GRCh38
NC_000008.10:g.75276247G>C , CM000670.1:g.75276247G>C	GRCh37
NC_000008.9:g.75438802G>C	NCBI36
NG_008787.2:g.47883G>C
NG_008787.3:g.47883G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.722G>C MANE Select	ENSP00000220822.7:p.Gly241Ala
ENST00000434412.3:c.590G>C	ENSP00000417006.3:p.Gly197Ala
ENST00000520797.6:n.833G>C
ENST00000521096.6:n.578G>C
ENST00000522568.2:c.*394G>C	ENSP00000430136.1:n.*394G>C
ENST00000523640.2:c.165+12691G>C	ENSP00000502017.1:n.165+12691G>C
ENST00000524195.2:c.280+959G>C	ENSP00000502308.1:n.280+959G>C
ENST00000674612.1:c.395G>C	ENSP00000501864.1:p.Gly132Ala
ENST00000674710.1:c.694+959G>C	ENSP00000502762.1:n.694+959G>C
ENST00000674754.1:c.*2285G>C	ENSP00000502063.1:n.*2285G>C
ENST00000674756.1:c.*366+959G>C	ENSP00000501860.1:n.*366+959G>C
ENST00000674806.1:c.395G>C	ENSP00000502637.1:p.Gly132Ala
ENST00000674865.1:c.518G>C	ENSP00000502437.1:p.Gly173Ala
ENST00000674926.1:c.*1354G>C	ENSP00000501799.1:n.*1354G>C
ENST00000674934.1:c.*410G>C	ENSP00000502187.1:n.*410G>C
ENST00000674944.1:c.*1325G>C	ENSP00000501858.1:n.*1325G>C
ENST00000674946.1:c.694+959G>C	ENSP00000501569.1:n.694+959G>C
ENST00000674973.1:c.416G>C	ENSP00000502447.1:p.Gly139Ala
ENST00000675007.1:c.*460G>C	ENSP00000502119.1:n.*460G>C
ENST00000675060.1:c.*387G>C	ENSP00000501616.1:n.*387G>C
ENST00000675165.1:c.719G>C	ENSP00000502612.1:p.Gly240Ala
ENST00000675220.1:c.395G>C	ENSP00000502588.1:p.Gly132Ala
ENST00000675265.1:c.*472G>C	ENSP00000501848.1:n.*472G>C
ENST00000675336.1:c.*208G>C	ENSP00000502120.1:n.*208G>C
ENST00000675376.1:c.395G>C	ENSP00000502838.1:p.Gly132Ala
ENST00000675463.1:c.800G>C	ENSP00000502327.1:p.Gly267Ala
ENST00000675472.1:c.*208G>C	ENSP00000501946.1:n.*208G>C
ENST00000675474.1:n.307G>C
ENST00000675560.1:c.*366+959G>C	ENSP00000502118.1:n.*366+959G>C
ENST00000675625.1:c.*394G>C	ENSP00000501626.1:n.*394G>C
ENST00000675633.1:c.*129G>C	ENSP00000501785.1:n.*129G>C
ENST00000675661.1:c.*482G>C	ENSP00000501958.1:n.*482G>C
ENST00000675706.1:n.2680G>C
ENST00000675821.1:c.395G>C	ENSP00000502198.1:p.Gly132Ala
ENST00000675832.1:c.*394G>C	ENSP00000502041.1:n.*394G>C
ENST00000675928.1:c.548G>C	ENSP00000501568.1:p.Gly183Ala
ENST00000675944.1:c.518G>C	ENSP00000502673.1:p.Gly173Ala
ENST00000675999.1:c.694+959G>C	ENSP00000502572.1:n.694+959G>C
ENST00000676049.1:c.*624G>C	ENSP00000501912.1:n.*624G>C
ENST00000676112.1:c.788G>C	ENSP00000502295.1:p.Gly263Ala
ENST00000676143.1:c.395G>C	ENSP00000502828.1:p.Gly132Ala
ENST00000676207.1:c.694+959G>C	ENSP00000502638.1:n.694+959G>C
ENST00000676377.1:c.395G>C	ENSP00000502756.1:p.Gly132Ala
ENST00000676415.1:c.*28G>C	ENSP00000502665.1:n.*28G>C
ENST00000676443.1:c.674G>C	ENSP00000501769.1:p.Gly225Ala
ENST00000220822.11:c.722G>C	ENSP00000220822.7:p.Gly241Ala
ENST00000434412.2:c.518G>C	ENSP00000417006.2:p.Gly173Ala
ENST00000520797.5:n.487G>C
ENST00000521096.5:n.528G>C
ENST00000522568.1:c.*394G>C	ENSP00000430136.1:n.*394G>C
ENST00000524195.1:n.103+959G>C
ENST00000524366.5:n.566G>C
NM_001040875.2:c.518G>C	NP_001035808.1:p.Gly173Ala
NM_018972.2:c.722G>C	NP_061845.2:p.Gly241Ala
NR_046346.1:n.656G>C
XM_011517551.1:c.1016G>C	XP_011515853.1:p.Gly339Ala
XM_011517552.1:c.395G>C	XP_011515854.1:p.Gly132Ala
NM_001040875.3:c.518G>C	NP_001035808.1:p.Gly173Ala
NM_001362929.1:c.395G>C	NP_001349858.1:p.Gly132Ala
NM_001362930.1:c.548G>C	NP_001349859.1:p.Gly183Ala
NM_001362931.1:c.694+959G>C	NP_001349860.1:n.694+959G>C
NM_001362932.1:c.395G>C	NP_001349861.1:p.Gly132Ala
NM_018972.3:c.722G>C	NP_061845.2:p.Gly241Ala
NM_001362931.2:c.694+959G>C	NP_001349860.1:n.694+959G>C
NM_018972.4:c.722G>C MANE Select	NP_061845.2:p.Gly241Ala
NM_001040875.4:c.518G>C	NP_001035808.1:p.Gly173Ala
NM_001362929.2:c.395G>C	NP_001349858.1:p.Gly132Ala
NM_001362930.2:c.548G>C	NP_001349859.1:p.Gly183Ala
NM_001362932.2:c.395G>C	NP_001349861.1:p.Gly132Ala