Canonical Allele Identifier: CA371549869

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276234C>A (hg19) ; chr8:g.74363999C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74363999C>A , CM000670.2:g.74363999C>A	GRCh38
NC_000008.10:g.75276234C>A , CM000670.1:g.75276234C>A	GRCh37
NC_000008.9:g.75438789C>A	NCBI36
NG_008787.2:g.47870C>A
NG_008787.3:g.47870C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.709C>A MANE Select	ENSP00000220822.7:p.Pro237Thr
ENST00000434412.3:c.577C>A	ENSP00000417006.3:p.Pro193Thr
ENST00000520797.6:n.820C>A
ENST00000521096.6:n.565C>A
ENST00000522568.2:c.*381C>A	ENSP00000430136.1:n.*381C>A
ENST00000523640.2:c.165+12678C>A	ENSP00000502017.1:n.165+12678C>A
ENST00000524195.2:c.280+946C>A	ENSP00000502308.1:n.280+946C>A
ENST00000674612.1:c.382C>A	ENSP00000501864.1:p.Pro128Thr
ENST00000674710.1:c.694+946C>A	ENSP00000502762.1:n.694+946C>A
ENST00000674754.1:c.*2272C>A	ENSP00000502063.1:n.*2272C>A
ENST00000674756.1:c.*366+946C>A	ENSP00000501860.1:n.*366+946C>A
ENST00000674806.1:c.382C>A	ENSP00000502637.1:p.Pro128Thr
ENST00000674865.1:c.505C>A	ENSP00000502437.1:p.Pro169Thr
ENST00000674926.1:c.*1341C>A	ENSP00000501799.1:n.*1341C>A
ENST00000674934.1:c.*397C>A	ENSP00000502187.1:n.*397C>A
ENST00000674944.1:c.*1312C>A	ENSP00000501858.1:n.*1312C>A
ENST00000674946.1:c.694+946C>A	ENSP00000501569.1:n.694+946C>A
ENST00000674973.1:c.403C>A	ENSP00000502447.1:p.Pro135Thr
ENST00000675007.1:c.*447C>A	ENSP00000502119.1:n.*447C>A
ENST00000675060.1:c.*374C>A	ENSP00000501616.1:n.*374C>A
ENST00000675165.1:c.706C>A	ENSP00000502612.1:p.Pro236Thr
ENST00000675220.1:c.382C>A	ENSP00000502588.1:p.Pro128Thr
ENST00000675265.1:c.*459C>A	ENSP00000501848.1:n.*459C>A
ENST00000675336.1:c.*195C>A	ENSP00000502120.1:n.*195C>A
ENST00000675376.1:c.382C>A	ENSP00000502838.1:p.Pro128Thr
ENST00000675463.1:c.787C>A	ENSP00000502327.1:p.Pro263Thr
ENST00000675472.1:c.*195C>A	ENSP00000501946.1:n.*195C>A
ENST00000675474.1:n.294C>A
ENST00000675560.1:c.*366+946C>A	ENSP00000502118.1:n.*366+946C>A
ENST00000675625.1:c.*381C>A	ENSP00000501626.1:n.*381C>A
ENST00000675633.1:c.*116C>A	ENSP00000501785.1:n.*116C>A
ENST00000675661.1:c.*469C>A	ENSP00000501958.1:n.*469C>A
ENST00000675706.1:n.2667C>A
ENST00000675821.1:c.382C>A	ENSP00000502198.1:p.Pro128Thr
ENST00000675832.1:c.*381C>A	ENSP00000502041.1:n.*381C>A
ENST00000675928.1:c.535C>A	ENSP00000501568.1:p.Pro179Thr
ENST00000675944.1:c.505C>A	ENSP00000502673.1:p.Pro169Thr
ENST00000675999.1:c.694+946C>A	ENSP00000502572.1:n.694+946C>A
ENST00000676049.1:c.*611C>A	ENSP00000501912.1:n.*611C>A
ENST00000676112.1:c.775C>A	ENSP00000502295.1:p.Pro259Thr
ENST00000676143.1:c.382C>A	ENSP00000502828.1:p.Pro128Thr
ENST00000676207.1:c.694+946C>A	ENSP00000502638.1:n.694+946C>A
ENST00000676377.1:c.382C>A	ENSP00000502756.1:p.Pro128Thr
ENST00000676415.1:c.*15C>A	ENSP00000502665.1:n.*15C>A
ENST00000676443.1:c.661C>A	ENSP00000501769.1:p.Pro221Thr
ENST00000220822.11:c.709C>A	ENSP00000220822.7:p.Pro237Thr
ENST00000434412.2:c.505C>A	ENSP00000417006.2:p.Pro169Thr
ENST00000520797.5:n.474C>A
ENST00000521096.5:n.515C>A
ENST00000522568.1:c.*381C>A	ENSP00000430136.1:n.*381C>A
ENST00000524195.1:n.103+946C>A
ENST00000524366.5:n.553C>A
NM_001040875.2:c.505C>A	NP_001035808.1:p.Pro169Thr
NM_018972.2:c.709C>A	NP_061845.2:p.Pro237Thr
NR_046346.1:n.643C>A
XM_011517551.1:c.1003C>A	XP_011515853.1:p.Pro335Thr
XM_011517552.1:c.382C>A	XP_011515854.1:p.Pro128Thr
NM_001040875.3:c.505C>A	NP_001035808.1:p.Pro169Thr
NM_001362929.1:c.382C>A	NP_001349858.1:p.Pro128Thr
NM_001362930.1:c.535C>A	NP_001349859.1:p.Pro179Thr
NM_001362931.1:c.694+946C>A	NP_001349860.1:n.694+946C>A
NM_001362932.1:c.382C>A	NP_001349861.1:p.Pro128Thr
NM_018972.3:c.709C>A	NP_061845.2:p.Pro237Thr
NM_001362931.2:c.694+946C>A	NP_001349860.1:n.694+946C>A
NM_018972.4:c.709C>A MANE Select	NP_061845.2:p.Pro237Thr
NM_001040875.4:c.505C>A	NP_001035808.1:p.Pro169Thr
NM_001362929.2:c.382C>A	NP_001349858.1:p.Pro128Thr
NM_001362930.2:c.535C>A	NP_001349859.1:p.Pro179Thr
NM_001362932.2:c.382C>A	NP_001349861.1:p.Pro128Thr