Canonical Allele Identifier: CA371550311

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75276339A>C (hg19) ; chr8:g.74364104A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364104A>C , CM000670.2:g.74364104A>C	GRCh38
NC_000008.10:g.75276339A>C , CM000670.1:g.75276339A>C	GRCh37
NC_000008.9:g.75438894A>C	NCBI36
NG_008787.2:g.47975A>C
NG_008787.3:g.47975A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.814A>C MANE Select	ENSP00000220822.7:p.Lys272Gln
ENST00000434412.3:c.682A>C	ENSP00000417006.3:p.Lys228Gln
ENST00000520797.6:n.925A>C
ENST00000521096.6:n.670A>C
ENST00000522568.2:c.*486A>C	ENSP00000430136.1:n.*486A>C
ENST00000523640.2:c.165+12783A>C	ENSP00000502017.1:n.165+12783A>C
ENST00000524195.2:c.280+1051A>C	ENSP00000502308.1:n.280+1051A>C
ENST00000674612.1:c.487A>C	ENSP00000501864.1:p.Lys163Gln
ENST00000674710.1:c.694+1051A>C	ENSP00000502762.1:n.694+1051A>C
ENST00000674754.1:c.*2377A>C	ENSP00000502063.1:n.*2377A>C
ENST00000674756.1:c.*366+1051A>C	ENSP00000501860.1:n.*366+1051A>C
ENST00000674806.1:c.487A>C	ENSP00000502637.1:p.Lys163Gln
ENST00000674865.1:c.610A>C	ENSP00000502437.1:p.Lys204Gln
ENST00000674926.1:c.*1446A>C	ENSP00000501799.1:n.*1446A>C
ENST00000674934.1:c.*502A>C	ENSP00000502187.1:n.*502A>C
ENST00000674944.1:c.*1417A>C	ENSP00000501858.1:n.*1417A>C
ENST00000674946.1:c.694+1051A>C	ENSP00000501569.1:n.694+1051A>C
ENST00000674973.1:c.508A>C	ENSP00000502447.1:p.Lys170Gln
ENST00000675007.1:c.*552A>C	ENSP00000502119.1:n.*552A>C
ENST00000675060.1:c.*479A>C	ENSP00000501616.1:n.*479A>C
ENST00000675165.1:c.811A>C	ENSP00000502612.1:p.Lys271Gln
ENST00000675220.1:c.487A>C	ENSP00000502588.1:p.Lys163Gln
ENST00000675265.1:c.*564A>C	ENSP00000501848.1:n.*564A>C
ENST00000675336.1:c.*300A>C	ENSP00000502120.1:n.*300A>C
ENST00000675376.1:c.487A>C	ENSP00000502838.1:p.Lys163Gln
ENST00000675463.1:c.892A>C	ENSP00000502327.1:p.Lys298Gln
ENST00000675472.1:c.*300A>C	ENSP00000501946.1:n.*300A>C
ENST00000675474.1:n.399A>C
ENST00000675560.1:c.*366+1051A>C	ENSP00000502118.1:n.*366+1051A>C
ENST00000675625.1:c.*486A>C	ENSP00000501626.1:n.*486A>C
ENST00000675633.1:c.*221A>C	ENSP00000501785.1:n.*221A>C
ENST00000675661.1:c.*574A>C	ENSP00000501958.1:n.*574A>C
ENST00000675706.1:n.2772A>C
ENST00000675821.1:c.487A>C	ENSP00000502198.1:p.Lys163Gln
ENST00000675832.1:c.*486A>C	ENSP00000502041.1:n.*486A>C
ENST00000675928.1:c.640A>C	ENSP00000501568.1:p.Lys214Gln
ENST00000675944.1:c.610A>C	ENSP00000502673.1:p.Lys204Gln
ENST00000675999.1:c.694+1051A>C	ENSP00000502572.1:n.694+1051A>C
ENST00000676049.1:c.*716A>C	ENSP00000501912.1:n.*716A>C
ENST00000676112.1:c.880A>C	ENSP00000502295.1:p.Lys294Gln
ENST00000676143.1:c.487A>C	ENSP00000502828.1:p.Lys163Gln
ENST00000676207.1:c.694+1051A>C	ENSP00000502638.1:n.694+1051A>C
ENST00000676377.1:c.487A>C	ENSP00000502756.1:p.Lys163Gln
ENST00000676415.1:c.*120A>C	ENSP00000502665.1:n.*120A>C
ENST00000676443.1:c.766A>C	ENSP00000501769.1:p.Lys256Gln
ENST00000220822.11:c.814A>C	ENSP00000220822.7:p.Lys272Gln
ENST00000434412.2:c.610A>C	ENSP00000417006.2:p.Lys204Gln
ENST00000520797.5:n.579A>C
ENST00000521096.5:n.620A>C
ENST00000522568.1:c.*486A>C	ENSP00000430136.1:n.*486A>C
ENST00000524195.1:n.103+1051A>C
NM_001040875.2:c.610A>C	NP_001035808.1:p.Lys204Gln
NM_018972.2:c.814A>C	NP_061845.2:p.Lys272Gln
NR_046346.1:n.748A>C
XM_011517551.1:c.1108A>C	XP_011515853.1:p.Lys370Gln
XM_011517552.1:c.487A>C	XP_011515854.1:p.Lys163Gln
NM_001040875.3:c.610A>C	NP_001035808.1:p.Lys204Gln
NM_001362929.1:c.487A>C	NP_001349858.1:p.Lys163Gln
NM_001362930.1:c.640A>C	NP_001349859.1:p.Lys214Gln
NM_001362931.1:c.694+1051A>C	NP_001349860.1:n.694+1051A>C
NM_001362932.1:c.487A>C	NP_001349861.1:p.Lys163Gln
NM_018972.3:c.814A>C	NP_061845.2:p.Lys272Gln
NM_001362931.2:c.694+1051A>C	NP_001349860.1:n.694+1051A>C
NM_018972.4:c.814A>C MANE Select	NP_061845.2:p.Lys272Gln
NM_001040875.4:c.610A>C	NP_001035808.1:p.Lys204Gln
NM_001362929.2:c.487A>C	NP_001349858.1:p.Lys163Gln
NM_001362930.2:c.640A>C	NP_001349859.1:p.Lys214Gln
NM_001362932.2:c.487A>C	NP_001349861.1:p.Lys163Gln