Canonical Allele Identifier: CA461772612

Gene: GDAP1

Linked Data

• dbSNP Id: rs1809509169
• MyVariant Identifiers: chr8:g.75276407A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364172A>G , CM000670.2:g.74364172A>G	GRCh38
NC_000008.10:g.75276407A>G , CM000670.1:g.75276407A>G	GRCh37
NC_000008.9:g.75438962A>G	NCBI36
NG_008787.2:g.48043A>G
NG_008787.3:g.48043A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.882A>G MANE Select	ENSP00000220822.7:p.Gly294=
ENST00000434412.3:c.750A>G	ENSP00000417006.3:p.Gly250=
ENST00000520797.6:n.993A>G
ENST00000521096.6:n.738A>G
ENST00000522568.2:c.*545+9A>G	ENSP00000430136.1:n.*545+9A>G
ENST00000523640.2:c.165+12851A>G	ENSP00000502017.1:n.165+12851A>G
ENST00000524195.2:c.280+1119A>G	ENSP00000502308.1:n.280+1119A>G
ENST00000674612.1:c.555A>G	ENSP00000501864.1:p.Gly185=
ENST00000674710.1:c.694+1119A>G	ENSP00000502762.1:n.694+1119A>G
ENST00000674754.1:c.*2445A>G	ENSP00000502063.1:n.*2445A>G
ENST00000674756.1:c.*366+1119A>G	ENSP00000501860.1:n.*366+1119A>G
ENST00000674806.1:c.555A>G	ENSP00000502637.1:p.Gly185=
ENST00000674865.1:c.678A>G	ENSP00000502437.1:p.Gly226=
ENST00000674926.1:c.*1514A>G	ENSP00000501799.1:n.*1514A>G
ENST00000674934.1:c.*570A>G	ENSP00000502187.1:n.*570A>G
ENST00000674944.1:c.*1485A>G	ENSP00000501858.1:n.*1485A>G
ENST00000674946.1:c.694+1119A>G	ENSP00000501569.1:n.694+1119A>G
ENST00000674973.1:c.576A>G	ENSP00000502447.1:p.Gly192=
ENST00000675007.1:c.*620A>G	ENSP00000502119.1:n.*620A>G
ENST00000675060.1:c.*547A>G	ENSP00000501616.1:n.*547A>G
ENST00000675165.1:c.879A>G	ENSP00000502612.1:p.Gly293=
ENST00000675220.1:c.555A>G	ENSP00000502588.1:p.Gly185=
ENST00000675265.1:c.*632A>G	ENSP00000501848.1:n.*632A>G
ENST00000675336.1:c.*368A>G	ENSP00000502120.1:n.*368A>G
ENST00000675376.1:c.555A>G	ENSP00000502838.1:p.Gly185=
ENST00000675463.1:c.960A>G	ENSP00000502327.1:p.Gly320=
ENST00000675472.1:c.*368A>G	ENSP00000501946.1:n.*368A>G
ENST00000675474.1:n.467A>G
ENST00000675560.1:c.*366+1119A>G	ENSP00000502118.1:n.*366+1119A>G
ENST00000675625.1:c.*554A>G	ENSP00000501626.1:n.*554A>G
ENST00000675633.1:c.*289A>G	ENSP00000501785.1:n.*289A>G
ENST00000675661.1:c.*642A>G	ENSP00000501958.1:n.*642A>G
ENST00000675706.1:n.2840A>G
ENST00000675821.1:c.555A>G	ENSP00000502198.1:p.Gly185=
ENST00000675832.1:c.*554A>G	ENSP00000502041.1:n.*554A>G
ENST00000675928.1:c.708A>G	ENSP00000501568.1:p.Gly236=
ENST00000675944.1:c.678A>G	ENSP00000502673.1:p.Gly226=
ENST00000675999.1:c.694+1119A>G	ENSP00000502572.1:n.694+1119A>G
ENST00000676049.1:c.*784A>G	ENSP00000501912.1:n.*784A>G
ENST00000676112.1:c.948A>G	ENSP00000502295.1:p.Gly316=
ENST00000676143.1:c.555A>G	ENSP00000502828.1:p.Gly185=
ENST00000676207.1:c.694+1119A>G	ENSP00000502638.1:n.694+1119A>G
ENST00000676377.1:c.555A>G	ENSP00000502756.1:p.Gly185=
ENST00000676415.1:c.*188A>G	ENSP00000502665.1:n.*188A>G
ENST00000676443.1:c.834A>G	ENSP00000501769.1:p.Gly278=
ENST00000220822.11:c.882A>G	ENSP00000220822.7:p.Gly294=
ENST00000434412.2:c.678A>G	ENSP00000417006.2:p.Gly226=
ENST00000520797.5:n.647A>G
ENST00000521096.5:n.688A>G
ENST00000522568.1:c.*554A>G	ENSP00000430136.1:n.*554A>G
ENST00000524195.1:n.103+1119A>G
NM_001040875.2:c.678A>G	NP_001035808.1:p.Gly226=
NM_018972.2:c.882A>G	NP_061845.2:p.Gly294=
NR_046346.1:n.816A>G
XM_011517551.1:c.1176A>G	XP_011515853.1:p.Gly392=
XM_011517552.1:c.555A>G	XP_011515854.1:p.Gly185=
NM_001040875.3:c.678A>G	NP_001035808.1:p.Gly226=
NM_001362929.1:c.555A>G	NP_001349858.1:p.Gly185=
NM_001362930.1:c.708A>G	NP_001349859.1:p.Gly236=
NM_001362931.1:c.694+1119A>G	NP_001349860.1:n.694+1119A>G
NM_001362932.1:c.555A>G	NP_001349861.1:p.Gly185=
NM_018972.3:c.882A>G	NP_061845.2:p.Gly294=
NM_001362931.2:c.694+1119A>G	NP_001349860.1:n.694+1119A>G
NM_018972.4:c.882A>G MANE Select	NP_061845.2:p.Gly294=
NM_001040875.4:c.678A>G	NP_001035808.1:p.Gly226=
NM_001362929.2:c.555A>G	NP_001349858.1:p.Gly185=
NM_001362930.2:c.708A>G	NP_001349859.1:p.Gly236=
NM_001362932.2:c.555A>G	NP_001349861.1:p.Gly185=