Canonical Allele Identifier: CA4785316

Gene: GDAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74365782C>T , CM000670.2:g.74365782C>T	GRCh38
NC_000008.10:g.75278017C>T , CM000670.1:g.75278017C>T	GRCh37
NC_000008.9:g.75440572C>T	NCBI36
NG_008787.2:g.49653C>T
NG_008787.3:g.49653C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018972.4:c.*1415C>T MANE Select	NP_061845.2:n.*1415C>T
ENST00000220822.12:c.*1415C>T MANE Select	ENSP00000220822.7:n.*1415C>T
NM_001040875.2:c.*1415C>T	NP_001035808.1:n.*1415C>T
NM_001040875.3:c.*1415C>T	NP_001035808.1:n.*1415C>T
NM_001040875.4:c.*1415C>T	NP_001035808.1:n.*1415C>T
NM_001362929.1:c.*1415C>T	NP_001349858.1:n.*1415C>T
NM_001362929.2:c.*1415C>T	NP_001349858.1:n.*1415C>T
NM_001362930.1:c.*1415C>T	NP_001349859.1:n.*1415C>T
NM_001362930.2:c.*1415C>T	NP_001349859.1:n.*1415C>T
NM_001362931.1:c.694+2729C>T	NP_001349860.1:n.694+2729C>T
NM_001362931.2:c.694+2729C>T	NP_001349860.1:n.694+2729C>T
NM_001362932.1:c.*1415C>T	NP_001349861.1:n.*1415C>T
NM_001362932.2:c.*1415C>T	NP_001349861.1:n.*1415C>T
NM_018972.2:c.*1415C>T	NP_061845.2:n.*1415C>T
NM_018972.3:c.*1415C>T	NP_061845.2:n.*1415C>T
NR_046346.1:n.2426C>T
ENST00000220822.11:c.*1415C>T	ENSP00000220822.7:n.*1415C>T
ENST00000434412.3:c.*1415C>T	ENSP00000417006.3:n.*1415C>T
ENST00000521096.6:n.2348C>T
ENST00000522568.2:c.*545+1619C>T	ENSP00000430136.1:n.*545+1619C>T
ENST00000523640.2:c.165+14461C>T	ENSP00000502017.1:n.165+14461C>T
ENST00000524195.1:n.103+2729C>T
ENST00000524195.2:c.280+2729C>T	ENSP00000502308.1:n.280+2729C>T
ENST00000674612.1:c.*1415C>T	ENSP00000501864.1:n.*1415C>T
ENST00000674710.1:c.694+2729C>T	ENSP00000502762.1:n.694+2729C>T
ENST00000674754.1:c.*4055C>T	ENSP00000502063.1:n.*4055C>T
ENST00000674756.1:c.*366+2729C>T	ENSP00000501860.1:n.*366+2729C>T
ENST00000674806.1:c.*1415C>T	ENSP00000502637.1:n.*1415C>T
ENST00000674865.1:c.*1415C>T	ENSP00000502437.1:n.*1415C>T
ENST00000674926.1:c.*3124C>T	ENSP00000501799.1:n.*3124C>T
ENST00000674934.1:c.*2180C>T	ENSP00000502187.1:n.*2180C>T
ENST00000674944.1:c.*3095C>T	ENSP00000501858.1:n.*3095C>T
ENST00000674946.1:c.694+2729C>T	ENSP00000501569.1:n.694+2729C>T
ENST00000674973.1:c.*1415C>T	ENSP00000502447.1:n.*1415C>T
ENST00000675007.1:c.*2230C>T	ENSP00000502119.1:n.*2230C>T
ENST00000675165.1:c.*1415C>T	ENSP00000502612.1:n.*1415C>T
ENST00000675220.1:c.*1415C>T	ENSP00000502588.1:n.*1415C>T
ENST00000675265.1:c.*2242C>T	ENSP00000501848.1:n.*2242C>T
ENST00000675336.1:c.*1978C>T	ENSP00000502120.1:n.*1978C>T
ENST00000675376.1:c.*1415C>T	ENSP00000502838.1:n.*1415C>T
ENST00000675463.1:c.*1415C>T	ENSP00000502327.1:n.*1415C>T
ENST00000675472.1:c.*1978C>T	ENSP00000501946.1:n.*1978C>T
ENST00000675560.1:c.*366+2729C>T	ENSP00000502118.1:n.*366+2729C>T
ENST00000675625.1:c.*2164C>T	ENSP00000501626.1:n.*2164C>T
ENST00000675633.1:c.*1899C>T	ENSP00000501785.1:n.*1899C>T
ENST00000675661.1:c.*2252C>T	ENSP00000501958.1:n.*2252C>T
ENST00000675706.1:n.4450C>T
ENST00000675821.1:c.*1415C>T	ENSP00000502198.1:n.*1415C>T
ENST00000675832.1:c.*2164C>T	ENSP00000502041.1:n.*2164C>T
ENST00000675944.1:c.*1415C>T	ENSP00000502673.1:n.*1415C>T
ENST00000675999.1:c.694+2729C>T	ENSP00000502572.1:n.694+2729C>T
ENST00000676049.1:c.*2394C>T	ENSP00000501912.1:n.*2394C>T
ENST00000676112.1:c.*1415C>T	ENSP00000502295.1:n.*1415C>T
ENST00000676143.1:c.*1415C>T	ENSP00000502828.1:n.*1415C>T
ENST00000676207.1:c.694+2729C>T	ENSP00000502638.1:n.694+2729C>T
ENST00000676377.1:c.*1415C>T	ENSP00000502756.1:n.*1415C>T
ENST00000676415.1:c.*1798C>T	ENSP00000502665.1:n.*1798C>T
ENST00000676443.1:c.*1415C>T	ENSP00000501769.1:n.*1415C>T
XM_011517551.1:c.*1415C>T	XP_011515853.1:n.*1415C>T
XM_011517552.1:c.*1415C>T	XP_011515854.1:n.*1415C>T