Canonical Allele Identifier: CA371550385

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276373T>C (hg19) ; chr8:g.74364138T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364138T>C , CM000670.2:g.74364138T>C	GRCh38
NC_000008.10:g.75276373T>C , CM000670.1:g.75276373T>C	GRCh37
NC_000008.9:g.75438928T>C	NCBI36
NG_008787.2:g.48009T>C
NG_008787.3:g.48009T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.848T>C MANE Select	ENSP00000220822.7:p.Val283Ala
ENST00000434412.3:c.716T>C	ENSP00000417006.3:p.Val239Ala
ENST00000520797.6:n.959T>C
ENST00000521096.6:n.704T>C
ENST00000522568.2:c.*520T>C	ENSP00000430136.1:n.*520T>C
ENST00000523640.2:c.165+12817T>C	ENSP00000502017.1:n.165+12817T>C
ENST00000524195.2:c.280+1085T>C	ENSP00000502308.1:n.280+1085T>C
ENST00000674612.1:c.521T>C	ENSP00000501864.1:p.Val174Ala
ENST00000674710.1:c.694+1085T>C	ENSP00000502762.1:n.694+1085T>C
ENST00000674754.1:c.*2411T>C	ENSP00000502063.1:n.*2411T>C
ENST00000674756.1:c.*366+1085T>C	ENSP00000501860.1:n.*366+1085T>C
ENST00000674806.1:c.521T>C	ENSP00000502637.1:p.Val174Ala
ENST00000674865.1:c.644T>C	ENSP00000502437.1:p.Val215Ala
ENST00000674926.1:c.*1480T>C	ENSP00000501799.1:n.*1480T>C
ENST00000674934.1:c.*536T>C	ENSP00000502187.1:n.*536T>C
ENST00000674944.1:c.*1451T>C	ENSP00000501858.1:n.*1451T>C
ENST00000674946.1:c.694+1085T>C	ENSP00000501569.1:n.694+1085T>C
ENST00000674973.1:c.542T>C	ENSP00000502447.1:p.Val181Ala
ENST00000675007.1:c.*586T>C	ENSP00000502119.1:n.*586T>C
ENST00000675060.1:c.*513T>C	ENSP00000501616.1:n.*513T>C
ENST00000675165.1:c.845T>C	ENSP00000502612.1:p.Val282Ala
ENST00000675220.1:c.521T>C	ENSP00000502588.1:p.Val174Ala
ENST00000675265.1:c.*598T>C	ENSP00000501848.1:n.*598T>C
ENST00000675336.1:c.*334T>C	ENSP00000502120.1:n.*334T>C
ENST00000675376.1:c.521T>C	ENSP00000502838.1:p.Val174Ala
ENST00000675463.1:c.926T>C	ENSP00000502327.1:p.Val309Ala
ENST00000675472.1:c.*334T>C	ENSP00000501946.1:n.*334T>C
ENST00000675474.1:n.433T>C
ENST00000675560.1:c.*366+1085T>C	ENSP00000502118.1:n.*366+1085T>C
ENST00000675625.1:c.*520T>C	ENSP00000501626.1:n.*520T>C
ENST00000675633.1:c.*255T>C	ENSP00000501785.1:n.*255T>C
ENST00000675661.1:c.*608T>C	ENSP00000501958.1:n.*608T>C
ENST00000675706.1:n.2806T>C
ENST00000675821.1:c.521T>C	ENSP00000502198.1:p.Val174Ala
ENST00000675832.1:c.*520T>C	ENSP00000502041.1:n.*520T>C
ENST00000675928.1:c.674T>C	ENSP00000501568.1:p.Val225Ala
ENST00000675944.1:c.644T>C	ENSP00000502673.1:p.Val215Ala
ENST00000675999.1:c.694+1085T>C	ENSP00000502572.1:n.694+1085T>C
ENST00000676049.1:c.*750T>C	ENSP00000501912.1:n.*750T>C
ENST00000676112.1:c.914T>C	ENSP00000502295.1:p.Val305Ala
ENST00000676143.1:c.521T>C	ENSP00000502828.1:p.Val174Ala
ENST00000676207.1:c.694+1085T>C	ENSP00000502638.1:n.694+1085T>C
ENST00000676377.1:c.521T>C	ENSP00000502756.1:p.Val174Ala
ENST00000676415.1:c.*154T>C	ENSP00000502665.1:n.*154T>C
ENST00000676443.1:c.800T>C	ENSP00000501769.1:p.Val267Ala
ENST00000220822.11:c.848T>C	ENSP00000220822.7:p.Val283Ala
ENST00000434412.2:c.644T>C	ENSP00000417006.2:p.Val215Ala
ENST00000520797.5:n.613T>C
ENST00000521096.5:n.654T>C
ENST00000522568.1:c.*520T>C	ENSP00000430136.1:n.*520T>C
ENST00000524195.1:n.103+1085T>C
NM_001040875.2:c.644T>C	NP_001035808.1:p.Val215Ala
NM_018972.2:c.848T>C	NP_061845.2:p.Val283Ala
NR_046346.1:n.782T>C
XM_011517551.1:c.1142T>C	XP_011515853.1:p.Val381Ala
XM_011517552.1:c.521T>C	XP_011515854.1:p.Val174Ala
NM_001040875.3:c.644T>C	NP_001035808.1:p.Val215Ala
NM_001362929.1:c.521T>C	NP_001349858.1:p.Val174Ala
NM_001362930.1:c.674T>C	NP_001349859.1:p.Val225Ala
NM_001362931.1:c.694+1085T>C	NP_001349860.1:n.694+1085T>C
NM_001362932.1:c.521T>C	NP_001349861.1:p.Val174Ala
NM_018972.3:c.848T>C	NP_061845.2:p.Val283Ala
NM_001362931.2:c.694+1085T>C	NP_001349860.1:n.694+1085T>C
NM_018972.4:c.848T>C MANE Select	NP_061845.2:p.Val283Ala
NM_001040875.4:c.644T>C	NP_001035808.1:p.Val215Ala
NM_001362929.2:c.521T>C	NP_001349858.1:p.Val174Ala
NM_001362930.2:c.674T>C	NP_001349859.1:p.Val225Ala
NM_001362932.2:c.521T>C	NP_001349861.1:p.Val174Ala