Canonical Allele Identifier: CA371550425

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 2800752
• ClinVar RCV Id: RCV003612482
• gnomAD v4: 8-74364156-T-A
• MyVariant Identifiers: chr8:g.75276391T>A (hg19) ; chr8:g.74364156T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364156T>A , CM000670.2:g.74364156T>A	GRCh38
NC_000008.10:g.75276391T>A , CM000670.1:g.75276391T>A	GRCh37
NC_000008.9:g.75438946T>A	NCBI36
NG_008787.2:g.48027T>A
NG_008787.3:g.48027T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.866T>A MANE Select	ENSP00000220822.7:p.Phe289Tyr
ENST00000434412.3:c.734T>A	ENSP00000417006.3:p.Phe245Tyr
ENST00000520797.6:n.977T>A
ENST00000521096.6:n.722T>A
ENST00000522568.2:c.*538T>A	ENSP00000430136.1:n.*538T>A
ENST00000523640.2:c.165+12835T>A	ENSP00000502017.1:n.165+12835T>A
ENST00000524195.2:c.280+1103T>A	ENSP00000502308.1:n.280+1103T>A
ENST00000674612.1:c.539T>A	ENSP00000501864.1:p.Phe180Tyr
ENST00000674710.1:c.694+1103T>A	ENSP00000502762.1:n.694+1103T>A
ENST00000674754.1:c.*2429T>A	ENSP00000502063.1:n.*2429T>A
ENST00000674756.1:c.*366+1103T>A	ENSP00000501860.1:n.*366+1103T>A
ENST00000674806.1:c.539T>A	ENSP00000502637.1:p.Phe180Tyr
ENST00000674865.1:c.662T>A	ENSP00000502437.1:p.Phe221Tyr
ENST00000674926.1:c.*1498T>A	ENSP00000501799.1:n.*1498T>A
ENST00000674934.1:c.*554T>A	ENSP00000502187.1:n.*554T>A
ENST00000674944.1:c.*1469T>A	ENSP00000501858.1:n.*1469T>A
ENST00000674946.1:c.694+1103T>A	ENSP00000501569.1:n.694+1103T>A
ENST00000674973.1:c.560T>A	ENSP00000502447.1:p.Phe187Tyr
ENST00000675007.1:c.*604T>A	ENSP00000502119.1:n.*604T>A
ENST00000675060.1:c.*531T>A	ENSP00000501616.1:n.*531T>A
ENST00000675165.1:c.863T>A	ENSP00000502612.1:p.Phe288Tyr
ENST00000675220.1:c.539T>A	ENSP00000502588.1:p.Phe180Tyr
ENST00000675265.1:c.*616T>A	ENSP00000501848.1:n.*616T>A
ENST00000675336.1:c.*352T>A	ENSP00000502120.1:n.*352T>A
ENST00000675376.1:c.539T>A	ENSP00000502838.1:p.Phe180Tyr
ENST00000675463.1:c.944T>A	ENSP00000502327.1:p.Phe315Tyr
ENST00000675472.1:c.*352T>A	ENSP00000501946.1:n.*352T>A
ENST00000675474.1:n.451T>A
ENST00000675560.1:c.*366+1103T>A	ENSP00000502118.1:n.*366+1103T>A
ENST00000675625.1:c.*538T>A	ENSP00000501626.1:n.*538T>A
ENST00000675633.1:c.*273T>A	ENSP00000501785.1:n.*273T>A
ENST00000675661.1:c.*626T>A	ENSP00000501958.1:n.*626T>A
ENST00000675706.1:n.2824T>A
ENST00000675821.1:c.539T>A	ENSP00000502198.1:p.Phe180Tyr
ENST00000675832.1:c.*538T>A	ENSP00000502041.1:n.*538T>A
ENST00000675928.1:c.692T>A	ENSP00000501568.1:p.Phe231Tyr
ENST00000675944.1:c.662T>A	ENSP00000502673.1:p.Phe221Tyr
ENST00000675999.1:c.694+1103T>A	ENSP00000502572.1:n.694+1103T>A
ENST00000676049.1:c.*768T>A	ENSP00000501912.1:n.*768T>A
ENST00000676112.1:c.932T>A	ENSP00000502295.1:p.Phe311Tyr
ENST00000676143.1:c.539T>A	ENSP00000502828.1:p.Phe180Tyr
ENST00000676207.1:c.694+1103T>A	ENSP00000502638.1:n.694+1103T>A
ENST00000676377.1:c.539T>A	ENSP00000502756.1:p.Phe180Tyr
ENST00000676415.1:c.*172T>A	ENSP00000502665.1:n.*172T>A
ENST00000676443.1:c.818T>A	ENSP00000501769.1:p.Phe273Tyr
ENST00000220822.11:c.866T>A	ENSP00000220822.7:p.Phe289Tyr
ENST00000434412.2:c.662T>A	ENSP00000417006.2:p.Phe221Tyr
ENST00000520797.5:n.631T>A
ENST00000521096.5:n.672T>A
ENST00000522568.1:c.*538T>A	ENSP00000430136.1:n.*538T>A
ENST00000524195.1:n.103+1103T>A
NM_001040875.2:c.662T>A	NP_001035808.1:p.Phe221Tyr
NM_018972.2:c.866T>A	NP_061845.2:p.Phe289Tyr
NR_046346.1:n.800T>A
XM_011517551.1:c.1160T>A	XP_011515853.1:p.Phe387Tyr
XM_011517552.1:c.539T>A	XP_011515854.1:p.Phe180Tyr
NM_001040875.3:c.662T>A	NP_001035808.1:p.Phe221Tyr
NM_001362929.1:c.539T>A	NP_001349858.1:p.Phe180Tyr
NM_001362930.1:c.692T>A	NP_001349859.1:p.Phe231Tyr
NM_001362931.1:c.694+1103T>A	NP_001349860.1:n.694+1103T>A
NM_001362932.1:c.539T>A	NP_001349861.1:p.Phe180Tyr
NM_018972.3:c.866T>A	NP_061845.2:p.Phe289Tyr
NM_001362931.2:c.694+1103T>A	NP_001349860.1:n.694+1103T>A
NM_018972.4:c.866T>A MANE Select	NP_061845.2:p.Phe289Tyr
NM_001040875.4:c.662T>A	NP_001035808.1:p.Phe221Tyr
NM_001362929.2:c.539T>A	NP_001349858.1:p.Phe180Tyr
NM_001362930.2:c.692T>A	NP_001349859.1:p.Phe231Tyr
NM_001362932.2:c.539T>A	NP_001349861.1:p.Phe180Tyr