Canonical Allele Identifier: CA461772297

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276263G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364028G>C , CM000670.2:g.74364028G>C	GRCh38
NC_000008.10:g.75276263G>C , CM000670.1:g.75276263G>C	GRCh37
NC_000008.9:g.75438818G>C	NCBI36
NG_008787.2:g.47899G>C
NG_008787.3:g.47899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.738G>C MANE Select	ENSP00000220822.7:p.Leu246=
ENST00000434412.3:c.606G>C	ENSP00000417006.3:p.Leu202=
ENST00000520797.6:n.849G>C
ENST00000521096.6:n.594G>C
ENST00000522568.2:c.*410G>C	ENSP00000430136.1:n.*410G>C
ENST00000523640.2:c.165+12707G>C	ENSP00000502017.1:n.165+12707G>C
ENST00000524195.2:c.280+975G>C	ENSP00000502308.1:n.280+975G>C
ENST00000674612.1:c.411G>C	ENSP00000501864.1:p.Leu137=
ENST00000674710.1:c.694+975G>C	ENSP00000502762.1:n.694+975G>C
ENST00000674754.1:c.*2301G>C	ENSP00000502063.1:n.*2301G>C
ENST00000674756.1:c.*366+975G>C	ENSP00000501860.1:n.*366+975G>C
ENST00000674806.1:c.411G>C	ENSP00000502637.1:p.Leu137=
ENST00000674865.1:c.534G>C	ENSP00000502437.1:p.Leu178=
ENST00000674926.1:c.*1370G>C	ENSP00000501799.1:n.*1370G>C
ENST00000674934.1:c.*426G>C	ENSP00000502187.1:n.*426G>C
ENST00000674944.1:c.*1341G>C	ENSP00000501858.1:n.*1341G>C
ENST00000674946.1:c.694+975G>C	ENSP00000501569.1:n.694+975G>C
ENST00000674973.1:c.432G>C	ENSP00000502447.1:p.Leu144=
ENST00000675007.1:c.*476G>C	ENSP00000502119.1:n.*476G>C
ENST00000675060.1:c.*403G>C	ENSP00000501616.1:n.*403G>C
ENST00000675165.1:c.735G>C	ENSP00000502612.1:p.Leu245=
ENST00000675220.1:c.411G>C	ENSP00000502588.1:p.Leu137=
ENST00000675265.1:c.*488G>C	ENSP00000501848.1:n.*488G>C
ENST00000675336.1:c.*224G>C	ENSP00000502120.1:n.*224G>C
ENST00000675376.1:c.411G>C	ENSP00000502838.1:p.Leu137=
ENST00000675463.1:c.816G>C	ENSP00000502327.1:p.Leu272=
ENST00000675472.1:c.*224G>C	ENSP00000501946.1:n.*224G>C
ENST00000675474.1:n.323G>C
ENST00000675560.1:c.*366+975G>C	ENSP00000502118.1:n.*366+975G>C
ENST00000675625.1:c.*410G>C	ENSP00000501626.1:n.*410G>C
ENST00000675633.1:c.*145G>C	ENSP00000501785.1:n.*145G>C
ENST00000675661.1:c.*498G>C	ENSP00000501958.1:n.*498G>C
ENST00000675706.1:n.2696G>C
ENST00000675821.1:c.411G>C	ENSP00000502198.1:p.Leu137=
ENST00000675832.1:c.*410G>C	ENSP00000502041.1:n.*410G>C
ENST00000675928.1:c.564G>C	ENSP00000501568.1:p.Leu188=
ENST00000675944.1:c.534G>C	ENSP00000502673.1:p.Leu178=
ENST00000675999.1:c.694+975G>C	ENSP00000502572.1:n.694+975G>C
ENST00000676049.1:c.*640G>C	ENSP00000501912.1:n.*640G>C
ENST00000676112.1:c.804G>C	ENSP00000502295.1:p.Leu268=
ENST00000676143.1:c.411G>C	ENSP00000502828.1:p.Leu137=
ENST00000676207.1:c.694+975G>C	ENSP00000502638.1:n.694+975G>C
ENST00000676377.1:c.411G>C	ENSP00000502756.1:p.Leu137=
ENST00000676415.1:c.*44G>C	ENSP00000502665.1:n.*44G>C
ENST00000676443.1:c.690G>C	ENSP00000501769.1:p.Leu230=
ENST00000220822.11:c.738G>C	ENSP00000220822.7:p.Leu246=
ENST00000434412.2:c.534G>C	ENSP00000417006.2:p.Leu178=
ENST00000520797.5:n.503G>C
ENST00000521096.5:n.544G>C
ENST00000522568.1:c.*410G>C	ENSP00000430136.1:n.*410G>C
ENST00000524195.1:n.103+975G>C
ENST00000524366.5:n.582G>C
NM_001040875.2:c.534G>C	NP_001035808.1:p.Leu178=
NM_018972.2:c.738G>C	NP_061845.2:p.Leu246=
NR_046346.1:n.672G>C
XM_011517551.1:c.1032G>C	XP_011515853.1:p.Leu344=
XM_011517552.1:c.411G>C	XP_011515854.1:p.Leu137=
NM_001040875.3:c.534G>C	NP_001035808.1:p.Leu178=
NM_001362929.1:c.411G>C	NP_001349858.1:p.Leu137=
NM_001362930.1:c.564G>C	NP_001349859.1:p.Leu188=
NM_001362931.1:c.694+975G>C	NP_001349860.1:n.694+975G>C
NM_001362932.1:c.411G>C	NP_001349861.1:p.Leu137=
NM_018972.3:c.738G>C	NP_061845.2:p.Leu246=
NM_001362931.2:c.694+975G>C	NP_001349860.1:n.694+975G>C
NM_018972.4:c.738G>C MANE Select	NP_061845.2:p.Leu246=
NM_001040875.4:c.534G>C	NP_001035808.1:p.Leu178=
NM_001362929.2:c.411G>C	NP_001349858.1:p.Leu137=
NM_001362930.2:c.564G>C	NP_001349859.1:p.Leu188=
NM_001362932.2:c.411G>C	NP_001349861.1:p.Leu137=