Canonical Allele Identifier: CA371550405

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276382G>T (hg19) ; chr8:g.74364147G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364147G>T , CM000670.2:g.74364147G>T	GRCh38
NC_000008.10:g.75276382G>T , CM000670.1:g.75276382G>T	GRCh37
NC_000008.9:g.75438937G>T	NCBI36
NG_008787.2:g.48018G>T
NG_008787.3:g.48018G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.857G>T MANE Select	ENSP00000220822.7:p.Arg286Ile
ENST00000434412.3:c.725G>T	ENSP00000417006.3:p.Arg242Ile
ENST00000520797.6:n.968G>T
ENST00000521096.6:n.713G>T
ENST00000522568.2:c.*529G>T	ENSP00000430136.1:n.*529G>T
ENST00000523640.2:c.165+12826G>T	ENSP00000502017.1:n.165+12826G>T
ENST00000524195.2:c.280+1094G>T	ENSP00000502308.1:n.280+1094G>T
ENST00000674612.1:c.530G>T	ENSP00000501864.1:p.Arg177Ile
ENST00000674710.1:c.694+1094G>T	ENSP00000502762.1:n.694+1094G>T
ENST00000674754.1:c.*2420G>T	ENSP00000502063.1:n.*2420G>T
ENST00000674756.1:c.*366+1094G>T	ENSP00000501860.1:n.*366+1094G>T
ENST00000674806.1:c.530G>T	ENSP00000502637.1:p.Arg177Ile
ENST00000674865.1:c.653G>T	ENSP00000502437.1:p.Arg218Ile
ENST00000674926.1:c.*1489G>T	ENSP00000501799.1:n.*1489G>T
ENST00000674934.1:c.*545G>T	ENSP00000502187.1:n.*545G>T
ENST00000674944.1:c.*1460G>T	ENSP00000501858.1:n.*1460G>T
ENST00000674946.1:c.694+1094G>T	ENSP00000501569.1:n.694+1094G>T
ENST00000674973.1:c.551G>T	ENSP00000502447.1:p.Arg184Ile
ENST00000675007.1:c.*595G>T	ENSP00000502119.1:n.*595G>T
ENST00000675060.1:c.*522G>T	ENSP00000501616.1:n.*522G>T
ENST00000675165.1:c.854G>T	ENSP00000502612.1:p.Arg285Ile
ENST00000675220.1:c.530G>T	ENSP00000502588.1:p.Arg177Ile
ENST00000675265.1:c.*607G>T	ENSP00000501848.1:n.*607G>T
ENST00000675336.1:c.*343G>T	ENSP00000502120.1:n.*343G>T
ENST00000675376.1:c.530G>T	ENSP00000502838.1:p.Arg177Ile
ENST00000675463.1:c.935G>T	ENSP00000502327.1:p.Arg312Ile
ENST00000675472.1:c.*343G>T	ENSP00000501946.1:n.*343G>T
ENST00000675474.1:n.442G>T
ENST00000675560.1:c.*366+1094G>T	ENSP00000502118.1:n.*366+1094G>T
ENST00000675625.1:c.*529G>T	ENSP00000501626.1:n.*529G>T
ENST00000675633.1:c.*264G>T	ENSP00000501785.1:n.*264G>T
ENST00000675661.1:c.*617G>T	ENSP00000501958.1:n.*617G>T
ENST00000675706.1:n.2815G>T
ENST00000675821.1:c.530G>T	ENSP00000502198.1:p.Arg177Ile
ENST00000675832.1:c.*529G>T	ENSP00000502041.1:n.*529G>T
ENST00000675928.1:c.683G>T	ENSP00000501568.1:p.Arg228Ile
ENST00000675944.1:c.653G>T	ENSP00000502673.1:p.Arg218Ile
ENST00000675999.1:c.694+1094G>T	ENSP00000502572.1:n.694+1094G>T
ENST00000676049.1:c.*759G>T	ENSP00000501912.1:n.*759G>T
ENST00000676112.1:c.923G>T	ENSP00000502295.1:p.Arg308Ile
ENST00000676143.1:c.530G>T	ENSP00000502828.1:p.Arg177Ile
ENST00000676207.1:c.694+1094G>T	ENSP00000502638.1:n.694+1094G>T
ENST00000676377.1:c.530G>T	ENSP00000502756.1:p.Arg177Ile
ENST00000676415.1:c.*163G>T	ENSP00000502665.1:n.*163G>T
ENST00000676443.1:c.809G>T	ENSP00000501769.1:p.Arg270Ile
ENST00000220822.11:c.857G>T	ENSP00000220822.7:p.Arg286Ile
ENST00000434412.2:c.653G>T	ENSP00000417006.2:p.Arg218Ile
ENST00000520797.5:n.622G>T
ENST00000521096.5:n.663G>T
ENST00000522568.1:c.*529G>T	ENSP00000430136.1:n.*529G>T
ENST00000524195.1:n.103+1094G>T
NM_001040875.2:c.653G>T	NP_001035808.1:p.Arg218Ile
NM_018972.2:c.857G>T	NP_061845.2:p.Arg286Ile
NR_046346.1:n.791G>T
XM_011517551.1:c.1151G>T	XP_011515853.1:p.Arg384Ile
XM_011517552.1:c.530G>T	XP_011515854.1:p.Arg177Ile
NM_001040875.3:c.653G>T	NP_001035808.1:p.Arg218Ile
NM_001362929.1:c.530G>T	NP_001349858.1:p.Arg177Ile
NM_001362930.1:c.683G>T	NP_001349859.1:p.Arg228Ile
NM_001362931.1:c.694+1094G>T	NP_001349860.1:n.694+1094G>T
NM_001362932.1:c.530G>T	NP_001349861.1:p.Arg177Ile
NM_018972.3:c.857G>T	NP_061845.2:p.Arg286Ile
NM_001362931.2:c.694+1094G>T	NP_001349860.1:n.694+1094G>T
NM_018972.4:c.857G>T MANE Select	NP_061845.2:p.Arg286Ile
NM_001040875.4:c.653G>T	NP_001035808.1:p.Arg218Ile
NM_001362929.2:c.530G>T	NP_001349858.1:p.Arg177Ile
NM_001362930.2:c.683G>T	NP_001349859.1:p.Arg228Ile
NM_001362932.2:c.530G>T	NP_001349861.1:p.Arg177Ile