Canonical Allele Identifier: CA371550172

Gene: GDAP1

Linked Data

• COSMIC: COSM5784647
• MyVariant Identifiers: chr8:g.75276300A>T (hg19) ; chr8:g.74364065A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364065A>T , CM000670.2:g.74364065A>T	GRCh38
NC_000008.10:g.75276300A>T , CM000670.1:g.75276300A>T	GRCh37
NC_000008.9:g.75438855A>T	NCBI36
NG_008787.2:g.47936A>T
NG_008787.3:g.47936A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.775A>T MANE Select	ENSP00000220822.7:p.Lys259Ter
ENST00000434412.3:c.643A>T	ENSP00000417006.3:p.Lys215Ter
ENST00000520797.6:n.886A>T
ENST00000521096.6:n.631A>T
ENST00000522568.2:c.*447A>T	ENSP00000430136.1:n.*447A>T
ENST00000523640.2:c.165+12744A>T	ENSP00000502017.1:n.165+12744A>T
ENST00000524195.2:c.280+1012A>T	ENSP00000502308.1:n.280+1012A>T
ENST00000674612.1:c.448A>T	ENSP00000501864.1:p.Lys150Ter
ENST00000674710.1:c.694+1012A>T	ENSP00000502762.1:n.694+1012A>T
ENST00000674754.1:c.*2338A>T	ENSP00000502063.1:n.*2338A>T
ENST00000674756.1:c.*366+1012A>T	ENSP00000501860.1:n.*366+1012A>T
ENST00000674806.1:c.448A>T	ENSP00000502637.1:p.Lys150Ter
ENST00000674865.1:c.571A>T	ENSP00000502437.1:p.Lys191Ter
ENST00000674926.1:c.*1407A>T	ENSP00000501799.1:n.*1407A>T
ENST00000674934.1:c.*463A>T	ENSP00000502187.1:n.*463A>T
ENST00000674944.1:c.*1378A>T	ENSP00000501858.1:n.*1378A>T
ENST00000674946.1:c.694+1012A>T	ENSP00000501569.1:n.694+1012A>T
ENST00000674973.1:c.469A>T	ENSP00000502447.1:p.Lys157Ter
ENST00000675007.1:c.*513A>T	ENSP00000502119.1:n.*513A>T
ENST00000675060.1:c.*440A>T	ENSP00000501616.1:n.*440A>T
ENST00000675165.1:c.772A>T	ENSP00000502612.1:p.Lys258Ter
ENST00000675220.1:c.448A>T	ENSP00000502588.1:p.Lys150Ter
ENST00000675265.1:c.*525A>T	ENSP00000501848.1:n.*525A>T
ENST00000675336.1:c.*261A>T	ENSP00000502120.1:n.*261A>T
ENST00000675376.1:c.448A>T	ENSP00000502838.1:p.Lys150Ter
ENST00000675463.1:c.853A>T	ENSP00000502327.1:p.Lys285Ter
ENST00000675472.1:c.*261A>T	ENSP00000501946.1:n.*261A>T
ENST00000675474.1:n.360A>T
ENST00000675560.1:c.*366+1012A>T	ENSP00000502118.1:n.*366+1012A>T
ENST00000675625.1:c.*447A>T	ENSP00000501626.1:n.*447A>T
ENST00000675633.1:c.*182A>T	ENSP00000501785.1:n.*182A>T
ENST00000675661.1:c.*535A>T	ENSP00000501958.1:n.*535A>T
ENST00000675706.1:n.2733A>T
ENST00000675821.1:c.448A>T	ENSP00000502198.1:p.Lys150Ter
ENST00000675832.1:c.*447A>T	ENSP00000502041.1:n.*447A>T
ENST00000675928.1:c.601A>T	ENSP00000501568.1:p.Lys201Ter
ENST00000675944.1:c.571A>T	ENSP00000502673.1:p.Lys191Ter
ENST00000675999.1:c.694+1012A>T	ENSP00000502572.1:n.694+1012A>T
ENST00000676049.1:c.*677A>T	ENSP00000501912.1:n.*677A>T
ENST00000676112.1:c.841A>T	ENSP00000502295.1:p.Lys281Ter
ENST00000676143.1:c.448A>T	ENSP00000502828.1:p.Lys150Ter
ENST00000676207.1:c.694+1012A>T	ENSP00000502638.1:n.694+1012A>T
ENST00000676377.1:c.448A>T	ENSP00000502756.1:p.Lys150Ter
ENST00000676415.1:c.*81A>T	ENSP00000502665.1:n.*81A>T
ENST00000676443.1:c.727A>T	ENSP00000501769.1:p.Lys243Ter
ENST00000220822.11:c.775A>T	ENSP00000220822.7:p.Lys259Ter
ENST00000434412.2:c.571A>T	ENSP00000417006.2:p.Lys191Ter
ENST00000520797.5:n.540A>T
ENST00000521096.5:n.581A>T
ENST00000522568.1:c.*447A>T	ENSP00000430136.1:n.*447A>T
ENST00000524195.1:n.103+1012A>T
NM_001040875.2:c.571A>T	NP_001035808.1:p.Lys191Ter
NM_018972.2:c.775A>T	NP_061845.2:p.Lys259Ter
NR_046346.1:n.709A>T
XM_011517551.1:c.1069A>T	XP_011515853.1:p.Lys357Ter
XM_011517552.1:c.448A>T	XP_011515854.1:p.Lys150Ter
NM_001040875.3:c.571A>T	NP_001035808.1:p.Lys191Ter
NM_001362929.1:c.448A>T	NP_001349858.1:p.Lys150Ter
NM_001362930.1:c.601A>T	NP_001349859.1:p.Lys201Ter
NM_001362931.1:c.694+1012A>T	NP_001349860.1:n.694+1012A>T
NM_001362932.1:c.448A>T	NP_001349861.1:p.Lys150Ter
NM_018972.3:c.775A>T	NP_061845.2:p.Lys259Ter
NM_001362931.2:c.694+1012A>T	NP_001349860.1:n.694+1012A>T
NM_018972.4:c.775A>T MANE Select	NP_061845.2:p.Lys259Ter
NM_001040875.4:c.571A>T	NP_001035808.1:p.Lys191Ter
NM_001362929.2:c.448A>T	NP_001349858.1:p.Lys150Ter
NM_001362930.2:c.601A>T	NP_001349859.1:p.Lys201Ter
NM_001362932.2:c.448A>T	NP_001349861.1:p.Lys150Ter