Canonical Allele Identifier: CA461772535

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 1154566
• ClinVar RCV Id: RCV001496579
• dbSNP Id: rs1309093739
• gnomAD v2: 8-75276362-T-C
• gnomAD v4: 8-74364127-T-C
• MyVariant Identifiers: chr8:g.75276362T>C (hg19) ; chr8:g.74364127T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364127T>C , CM000670.2:g.74364127T>C	GRCh38
NC_000008.10:g.75276362T>C , CM000670.1:g.75276362T>C	GRCh37
NC_000008.9:g.75438917T>C	NCBI36
NG_008787.2:g.47998T>C
NG_008787.3:g.47998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.837T>C MANE Select	ENSP00000220822.7:p.Tyr279=
ENST00000434412.3:c.705T>C	ENSP00000417006.3:p.Tyr235=
ENST00000520797.6:n.948T>C
ENST00000521096.6:n.693T>C
ENST00000522568.2:c.*509T>C	ENSP00000430136.1:n.*509T>C
ENST00000523640.2:c.165+12806T>C	ENSP00000502017.1:n.165+12806T>C
ENST00000524195.2:c.280+1074T>C	ENSP00000502308.1:n.280+1074T>C
ENST00000674612.1:c.510T>C	ENSP00000501864.1:p.Tyr170=
ENST00000674710.1:c.694+1074T>C	ENSP00000502762.1:n.694+1074T>C
ENST00000674754.1:c.*2400T>C	ENSP00000502063.1:n.*2400T>C
ENST00000674756.1:c.*366+1074T>C	ENSP00000501860.1:n.*366+1074T>C
ENST00000674806.1:c.510T>C	ENSP00000502637.1:p.Tyr170=
ENST00000674865.1:c.633T>C	ENSP00000502437.1:p.Tyr211=
ENST00000674926.1:c.*1469T>C	ENSP00000501799.1:n.*1469T>C
ENST00000674934.1:c.*525T>C	ENSP00000502187.1:n.*525T>C
ENST00000674944.1:c.*1440T>C	ENSP00000501858.1:n.*1440T>C
ENST00000674946.1:c.694+1074T>C	ENSP00000501569.1:n.694+1074T>C
ENST00000674973.1:c.531T>C	ENSP00000502447.1:p.Tyr177=
ENST00000675007.1:c.*575T>C	ENSP00000502119.1:n.*575T>C
ENST00000675060.1:c.*502T>C	ENSP00000501616.1:n.*502T>C
ENST00000675165.1:c.834T>C	ENSP00000502612.1:p.Tyr278=
ENST00000675220.1:c.510T>C	ENSP00000502588.1:p.Tyr170=
ENST00000675265.1:c.*587T>C	ENSP00000501848.1:n.*587T>C
ENST00000675336.1:c.*323T>C	ENSP00000502120.1:n.*323T>C
ENST00000675376.1:c.510T>C	ENSP00000502838.1:p.Tyr170=
ENST00000675463.1:c.915T>C	ENSP00000502327.1:p.Tyr305=
ENST00000675472.1:c.*323T>C	ENSP00000501946.1:n.*323T>C
ENST00000675474.1:n.422T>C
ENST00000675560.1:c.*366+1074T>C	ENSP00000502118.1:n.*366+1074T>C
ENST00000675625.1:c.*509T>C	ENSP00000501626.1:n.*509T>C
ENST00000675633.1:c.*244T>C	ENSP00000501785.1:n.*244T>C
ENST00000675661.1:c.*597T>C	ENSP00000501958.1:n.*597T>C
ENST00000675706.1:n.2795T>C
ENST00000675821.1:c.510T>C	ENSP00000502198.1:p.Tyr170=
ENST00000675832.1:c.*509T>C	ENSP00000502041.1:n.*509T>C
ENST00000675928.1:c.663T>C	ENSP00000501568.1:p.Tyr221=
ENST00000675944.1:c.633T>C	ENSP00000502673.1:p.Tyr211=
ENST00000675999.1:c.694+1074T>C	ENSP00000502572.1:n.694+1074T>C
ENST00000676049.1:c.*739T>C	ENSP00000501912.1:n.*739T>C
ENST00000676112.1:c.903T>C	ENSP00000502295.1:p.Tyr301=
ENST00000676143.1:c.510T>C	ENSP00000502828.1:p.Tyr170=
ENST00000676207.1:c.694+1074T>C	ENSP00000502638.1:n.694+1074T>C
ENST00000676377.1:c.510T>C	ENSP00000502756.1:p.Tyr170=
ENST00000676415.1:c.*143T>C	ENSP00000502665.1:n.*143T>C
ENST00000676443.1:c.789T>C	ENSP00000501769.1:p.Tyr263=
ENST00000220822.11:c.837T>C	ENSP00000220822.7:p.Tyr279=
ENST00000434412.2:c.633T>C	ENSP00000417006.2:p.Tyr211=
ENST00000520797.5:n.602T>C
ENST00000521096.5:n.643T>C
ENST00000522568.1:c.*509T>C	ENSP00000430136.1:n.*509T>C
ENST00000524195.1:n.103+1074T>C
NM_001040875.2:c.633T>C	NP_001035808.1:p.Tyr211=
NM_018972.2:c.837T>C	NP_061845.2:p.Tyr279=
NR_046346.1:n.771T>C
XM_011517551.1:c.1131T>C	XP_011515853.1:p.Tyr377=
XM_011517552.1:c.510T>C	XP_011515854.1:p.Tyr170=
NM_001040875.3:c.633T>C	NP_001035808.1:p.Tyr211=
NM_001362929.1:c.510T>C	NP_001349858.1:p.Tyr170=
NM_001362930.1:c.663T>C	NP_001349859.1:p.Tyr221=
NM_001362931.1:c.694+1074T>C	NP_001349860.1:n.694+1074T>C
NM_001362932.1:c.510T>C	NP_001349861.1:p.Tyr170=
NM_018972.3:c.837T>C	NP_061845.2:p.Tyr279=
NM_001362931.2:c.694+1074T>C	NP_001349860.1:n.694+1074T>C
NM_018972.4:c.837T>C MANE Select	NP_061845.2:p.Tyr279=
NM_001040875.4:c.633T>C	NP_001035808.1:p.Tyr211=
NM_001362929.2:c.510T>C	NP_001349858.1:p.Tyr170=
NM_001362930.2:c.663T>C	NP_001349859.1:p.Tyr221=
NM_001362932.2:c.510T>C	NP_001349861.1:p.Tyr170=