Canonical Allele Identifier: CA371550091

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276282G>C (hg19) ; chr8:g.74364047G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364047G>C , CM000670.2:g.74364047G>C	GRCh38
NC_000008.10:g.75276282G>C , CM000670.1:g.75276282G>C	GRCh37
NC_000008.9:g.75438837G>C	NCBI36
NG_008787.2:g.47918G>C
NG_008787.3:g.47918G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.757G>C MANE Select	ENSP00000220822.7:p.Val253Leu
ENST00000434412.3:c.625G>C	ENSP00000417006.3:p.Val209Leu
ENST00000520797.6:n.868G>C
ENST00000521096.6:n.613G>C
ENST00000522568.2:c.*429G>C	ENSP00000430136.1:n.*429G>C
ENST00000523640.2:c.165+12726G>C	ENSP00000502017.1:n.165+12726G>C
ENST00000524195.2:c.280+994G>C	ENSP00000502308.1:n.280+994G>C
ENST00000674612.1:c.430G>C	ENSP00000501864.1:p.Val144Leu
ENST00000674710.1:c.694+994G>C	ENSP00000502762.1:n.694+994G>C
ENST00000674754.1:c.*2320G>C	ENSP00000502063.1:n.*2320G>C
ENST00000674756.1:c.*366+994G>C	ENSP00000501860.1:n.*366+994G>C
ENST00000674806.1:c.430G>C	ENSP00000502637.1:p.Val144Leu
ENST00000674865.1:c.553G>C	ENSP00000502437.1:p.Val185Leu
ENST00000674926.1:c.*1389G>C	ENSP00000501799.1:n.*1389G>C
ENST00000674934.1:c.*445G>C	ENSP00000502187.1:n.*445G>C
ENST00000674944.1:c.*1360G>C	ENSP00000501858.1:n.*1360G>C
ENST00000674946.1:c.694+994G>C	ENSP00000501569.1:n.694+994G>C
ENST00000674973.1:c.451G>C	ENSP00000502447.1:p.Val151Leu
ENST00000675007.1:c.*495G>C	ENSP00000502119.1:n.*495G>C
ENST00000675060.1:c.*422G>C	ENSP00000501616.1:n.*422G>C
ENST00000675165.1:c.754G>C	ENSP00000502612.1:p.Val252Leu
ENST00000675220.1:c.430G>C	ENSP00000502588.1:p.Val144Leu
ENST00000675265.1:c.*507G>C	ENSP00000501848.1:n.*507G>C
ENST00000675336.1:c.*243G>C	ENSP00000502120.1:n.*243G>C
ENST00000675376.1:c.430G>C	ENSP00000502838.1:p.Val144Leu
ENST00000675463.1:c.835G>C	ENSP00000502327.1:p.Val279Leu
ENST00000675472.1:c.*243G>C	ENSP00000501946.1:n.*243G>C
ENST00000675474.1:n.342G>C
ENST00000675560.1:c.*366+994G>C	ENSP00000502118.1:n.*366+994G>C
ENST00000675625.1:c.*429G>C	ENSP00000501626.1:n.*429G>C
ENST00000675633.1:c.*164G>C	ENSP00000501785.1:n.*164G>C
ENST00000675661.1:c.*517G>C	ENSP00000501958.1:n.*517G>C
ENST00000675706.1:n.2715G>C
ENST00000675821.1:c.430G>C	ENSP00000502198.1:p.Val144Leu
ENST00000675832.1:c.*429G>C	ENSP00000502041.1:n.*429G>C
ENST00000675928.1:c.583G>C	ENSP00000501568.1:p.Val195Leu
ENST00000675944.1:c.553G>C	ENSP00000502673.1:p.Val185Leu
ENST00000675999.1:c.694+994G>C	ENSP00000502572.1:n.694+994G>C
ENST00000676049.1:c.*659G>C	ENSP00000501912.1:n.*659G>C
ENST00000676112.1:c.823G>C	ENSP00000502295.1:p.Val275Leu
ENST00000676143.1:c.430G>C	ENSP00000502828.1:p.Val144Leu
ENST00000676207.1:c.694+994G>C	ENSP00000502638.1:n.694+994G>C
ENST00000676377.1:c.430G>C	ENSP00000502756.1:p.Val144Leu
ENST00000676415.1:c.*63G>C	ENSP00000502665.1:n.*63G>C
ENST00000676443.1:c.709G>C	ENSP00000501769.1:p.Val237Leu
ENST00000220822.11:c.757G>C	ENSP00000220822.7:p.Val253Leu
ENST00000434412.2:c.553G>C	ENSP00000417006.2:p.Val185Leu
ENST00000520797.5:n.522G>C
ENST00000521096.5:n.563G>C
ENST00000522568.1:c.*429G>C	ENSP00000430136.1:n.*429G>C
ENST00000524195.1:n.103+994G>C
NM_001040875.2:c.553G>C	NP_001035808.1:p.Val185Leu
NM_018972.2:c.757G>C	NP_061845.2:p.Val253Leu
NR_046346.1:n.691G>C
XM_011517551.1:c.1051G>C	XP_011515853.1:p.Val351Leu
XM_011517552.1:c.430G>C	XP_011515854.1:p.Val144Leu
NM_001040875.3:c.553G>C	NP_001035808.1:p.Val185Leu
NM_001362929.1:c.430G>C	NP_001349858.1:p.Val144Leu
NM_001362930.1:c.583G>C	NP_001349859.1:p.Val195Leu
NM_001362931.1:c.694+994G>C	NP_001349860.1:n.694+994G>C
NM_001362932.1:c.430G>C	NP_001349861.1:p.Val144Leu
NM_018972.3:c.757G>C	NP_061845.2:p.Val253Leu
NM_001362931.2:c.694+994G>C	NP_001349860.1:n.694+994G>C
NM_018972.4:c.757G>C MANE Select	NP_061845.2:p.Val253Leu
NM_001040875.4:c.553G>C	NP_001035808.1:p.Val185Leu
NM_001362929.2:c.430G>C	NP_001349858.1:p.Val144Leu
NM_001362930.2:c.583G>C	NP_001349859.1:p.Val195Leu
NM_001362932.2:c.430G>C	NP_001349861.1:p.Val144Leu