Canonical Allele Identifier: CA371550334

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276351T>A (hg19) ; chr8:g.74364116T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364116T>A , CM000670.2:g.74364116T>A	GRCh38
NC_000008.10:g.75276351T>A , CM000670.1:g.75276351T>A	GRCh37
NC_000008.9:g.75438906T>A	NCBI36
NG_008787.2:g.47987T>A
NG_008787.3:g.47987T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.826T>A MANE Select	ENSP00000220822.7:p.Leu276Met
ENST00000434412.3:c.694T>A	ENSP00000417006.3:p.Leu232Met
ENST00000520797.6:n.937T>A
ENST00000521096.6:n.682T>A
ENST00000522568.2:c.*498T>A	ENSP00000430136.1:n.*498T>A
ENST00000523640.2:c.165+12795T>A	ENSP00000502017.1:n.165+12795T>A
ENST00000524195.2:c.280+1063T>A	ENSP00000502308.1:n.280+1063T>A
ENST00000674612.1:c.499T>A	ENSP00000501864.1:p.Leu167Met
ENST00000674710.1:c.694+1063T>A	ENSP00000502762.1:n.694+1063T>A
ENST00000674754.1:c.*2389T>A	ENSP00000502063.1:n.*2389T>A
ENST00000674756.1:c.*366+1063T>A	ENSP00000501860.1:n.*366+1063T>A
ENST00000674806.1:c.499T>A	ENSP00000502637.1:p.Leu167Met
ENST00000674865.1:c.622T>A	ENSP00000502437.1:p.Leu208Met
ENST00000674926.1:c.*1458T>A	ENSP00000501799.1:n.*1458T>A
ENST00000674934.1:c.*514T>A	ENSP00000502187.1:n.*514T>A
ENST00000674944.1:c.*1429T>A	ENSP00000501858.1:n.*1429T>A
ENST00000674946.1:c.694+1063T>A	ENSP00000501569.1:n.694+1063T>A
ENST00000674973.1:c.520T>A	ENSP00000502447.1:p.Leu174Met
ENST00000675007.1:c.*564T>A	ENSP00000502119.1:n.*564T>A
ENST00000675060.1:c.*491T>A	ENSP00000501616.1:n.*491T>A
ENST00000675165.1:c.823T>A	ENSP00000502612.1:p.Leu275Met
ENST00000675220.1:c.499T>A	ENSP00000502588.1:p.Leu167Met
ENST00000675265.1:c.*576T>A	ENSP00000501848.1:n.*576T>A
ENST00000675336.1:c.*312T>A	ENSP00000502120.1:n.*312T>A
ENST00000675376.1:c.499T>A	ENSP00000502838.1:p.Leu167Met
ENST00000675463.1:c.904T>A	ENSP00000502327.1:p.Leu302Met
ENST00000675472.1:c.*312T>A	ENSP00000501946.1:n.*312T>A
ENST00000675474.1:n.411T>A
ENST00000675560.1:c.*366+1063T>A	ENSP00000502118.1:n.*366+1063T>A
ENST00000675625.1:c.*498T>A	ENSP00000501626.1:n.*498T>A
ENST00000675633.1:c.*233T>A	ENSP00000501785.1:n.*233T>A
ENST00000675661.1:c.*586T>A	ENSP00000501958.1:n.*586T>A
ENST00000675706.1:n.2784T>A
ENST00000675821.1:c.499T>A	ENSP00000502198.1:p.Leu167Met
ENST00000675832.1:c.*498T>A	ENSP00000502041.1:n.*498T>A
ENST00000675928.1:c.652T>A	ENSP00000501568.1:p.Leu218Met
ENST00000675944.1:c.622T>A	ENSP00000502673.1:p.Leu208Met
ENST00000675999.1:c.694+1063T>A	ENSP00000502572.1:n.694+1063T>A
ENST00000676049.1:c.*728T>A	ENSP00000501912.1:n.*728T>A
ENST00000676112.1:c.892T>A	ENSP00000502295.1:p.Leu298Met
ENST00000676143.1:c.499T>A	ENSP00000502828.1:p.Leu167Met
ENST00000676207.1:c.694+1063T>A	ENSP00000502638.1:n.694+1063T>A
ENST00000676377.1:c.499T>A	ENSP00000502756.1:p.Leu167Met
ENST00000676415.1:c.*132T>A	ENSP00000502665.1:n.*132T>A
ENST00000676443.1:c.778T>A	ENSP00000501769.1:p.Leu260Met
ENST00000220822.11:c.826T>A	ENSP00000220822.7:p.Leu276Met
ENST00000434412.2:c.622T>A	ENSP00000417006.2:p.Leu208Met
ENST00000520797.5:n.591T>A
ENST00000521096.5:n.632T>A
ENST00000522568.1:c.*498T>A	ENSP00000430136.1:n.*498T>A
ENST00000524195.1:n.103+1063T>A
NM_001040875.2:c.622T>A	NP_001035808.1:p.Leu208Met
NM_018972.2:c.826T>A	NP_061845.2:p.Leu276Met
NR_046346.1:n.760T>A
XM_011517551.1:c.1120T>A	XP_011515853.1:p.Leu374Met
XM_011517552.1:c.499T>A	XP_011515854.1:p.Leu167Met
NM_001040875.3:c.622T>A	NP_001035808.1:p.Leu208Met
NM_001362929.1:c.499T>A	NP_001349858.1:p.Leu167Met
NM_001362930.1:c.652T>A	NP_001349859.1:p.Leu218Met
NM_001362931.1:c.694+1063T>A	NP_001349860.1:n.694+1063T>A
NM_001362932.1:c.499T>A	NP_001349861.1:p.Leu167Met
NM_018972.3:c.826T>A	NP_061845.2:p.Leu276Met
NM_001362931.2:c.694+1063T>A	NP_001349860.1:n.694+1063T>A
NM_018972.4:c.826T>A MANE Select	NP_061845.2:p.Leu276Met
NM_001040875.4:c.622T>A	NP_001035808.1:p.Leu208Met
NM_001362929.2:c.499T>A	NP_001349858.1:p.Leu167Met
NM_001362930.2:c.652T>A	NP_001349859.1:p.Leu218Met
NM_001362932.2:c.499T>A	NP_001349861.1:p.Leu167Met