Canonical Allele Identifier: CA371549300

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 535790
• ClinVar RCV Id: RCV000643966 ; RCV000790267
• dbSNP Id: rs1554547986
• gnomAD v4: 8-74361970-C-T
• MyVariant Identifiers: chr8:g.75274205C>T (hg19) ; chr8:g.74361970C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74361970C>T , CM000670.2:g.74361970C>T	GRCh38
NC_000008.10:g.75274205C>T , CM000670.1:g.75274205C>T	GRCh37
NC_000008.9:g.75436760C>T	NCBI36
NG_008787.2:g.45841C>T
NG_008787.3:g.45841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.571C>T MANE Select	ENSP00000220822.7:p.Arg191Ter
ENST00000434412.3:c.439C>T	ENSP00000417006.3:p.Arg147Ter
ENST00000520797.6:n.682C>T
ENST00000521096.6:n.427C>T
ENST00000522568.2:c.*243C>T	ENSP00000430136.1:n.*243C>T
ENST00000523640.2:c.165+10649C>T	ENSP00000502017.1:n.165+10649C>T
ENST00000524195.2:c.166-969C>T	ENSP00000502308.1:n.166-969C>T
ENST00000674612.1:c.244C>T	ENSP00000501864.1:p.Arg82Ter
ENST00000674710.1:c.571C>T	ENSP00000502762.1:p.Arg191Ter
ENST00000674754.1:c.*243C>T	ENSP00000502063.1:n.*243C>T
ENST00000674756.1:c.*243C>T	ENSP00000501860.1:n.*243C>T
ENST00000674806.1:c.244C>T	ENSP00000502637.1:p.Arg82Ter
ENST00000674865.1:c.367C>T	ENSP00000502437.1:p.Arg123Ter
ENST00000674926.1:c.*243C>T	ENSP00000501799.1:n.*243C>T
ENST00000674934.1:c.*259C>T	ENSP00000502187.1:n.*259C>T
ENST00000674944.1:c.*243C>T	ENSP00000501858.1:n.*243C>T
ENST00000674946.1:c.571C>T	ENSP00000501569.1:p.Arg191Ter
ENST00000674973.1:c.265C>T	ENSP00000502447.1:p.Arg89Ter
ENST00000675007.1:c.*243C>T	ENSP00000502119.1:n.*243C>T
ENST00000675060.1:c.*236C>T	ENSP00000501616.1:n.*236C>T
ENST00000675165.1:c.571C>T	ENSP00000502612.1:p.Arg191Ter
ENST00000675220.1:c.244C>T	ENSP00000502588.1:p.Arg82Ter
ENST00000675265.1:c.*243C>T	ENSP00000501848.1:n.*243C>T
ENST00000675336.1:c.*57C>T	ENSP00000502120.1:n.*57C>T
ENST00000675376.1:c.244C>T	ENSP00000502838.1:p.Arg82Ter
ENST00000675463.1:c.571C>T	ENSP00000502327.1:p.Arg191Ter
ENST00000675472.1:c.*57C>T	ENSP00000501946.1:n.*57C>T
ENST00000675560.1:c.*243C>T	ENSP00000502118.1:n.*243C>T
ENST00000675565.1:n.388C>T
ENST00000675625.1:c.*243C>T	ENSP00000501626.1:n.*243C>T
ENST00000675633.1:c.571C>T	ENSP00000501785.1:p.Arg191Ter
ENST00000675661.1:c.*243C>T	ENSP00000501958.1:n.*243C>T
ENST00000675706.1:n.638C>T
ENST00000675821.1:c.244C>T	ENSP00000502198.1:p.Arg82Ter
ENST00000675832.1:c.*243C>T	ENSP00000502041.1:n.*243C>T
ENST00000675928.1:c.397C>T	ENSP00000501568.1:p.Arg133Ter
ENST00000675944.1:c.367C>T	ENSP00000502673.1:p.Arg123Ter
ENST00000675999.1:c.571C>T	ENSP00000502572.1:p.Arg191Ter
ENST00000676049.1:c.*473C>T	ENSP00000501912.1:n.*473C>T
ENST00000676112.1:c.571C>T	ENSP00000502295.1:p.Arg191Ter
ENST00000676120.1:c.*243C>T	ENSP00000502036.1:n.*243C>T
ENST00000676143.1:c.244C>T	ENSP00000502828.1:p.Arg82Ter
ENST00000676207.1:c.571C>T	ENSP00000502638.1:p.Arg191Ter
ENST00000676377.1:c.244C>T	ENSP00000502756.1:p.Arg82Ter
ENST00000676415.1:c.571C>T	ENSP00000502665.1:p.Arg191Ter
ENST00000676443.1:c.523C>T	ENSP00000501769.1:p.Arg175Ter
ENST00000220822.11:c.571C>T	ENSP00000220822.7:p.Arg191Ter
ENST00000434412.2:c.367C>T	ENSP00000417006.2:p.Arg123Ter
ENST00000520797.5:n.336C>T
ENST00000521096.5:n.377C>T
ENST00000522568.1:c.*243C>T	ENSP00000430136.1:n.*243C>T
ENST00000524366.5:n.415C>T
NM_001040875.2:c.367C>T	NP_001035808.1:p.Arg123Ter
NM_018972.2:c.571C>T	NP_061845.2:p.Arg191Ter
NR_046346.1:n.505C>T
XM_011517551.1:c.865C>T	XP_011515853.1:p.Arg289Ter
XM_011517552.1:c.244C>T	XP_011515854.1:p.Arg82Ter
NM_001040875.3:c.367C>T	NP_001035808.1:p.Arg123Ter
NM_001362929.1:c.244C>T	NP_001349858.1:p.Arg82Ter
NM_001362930.1:c.397C>T	NP_001349859.1:p.Arg133Ter
NM_001362931.1:c.571C>T	NP_001349860.1:p.Arg191Ter
NM_001362932.1:c.244C>T	NP_001349861.1:p.Arg82Ter
NM_018972.3:c.571C>T	NP_061845.2:p.Arg191Ter
XM_017013586.2:c.571C>T	XP_016869075.2:p.Arg191Ter
NM_001362931.2:c.571C>T	NP_001349860.1:p.Arg191Ter
NM_018972.4:c.571C>T MANE Select	NP_061845.2:p.Arg191Ter
NM_001040875.4:c.367C>T	NP_001035808.1:p.Arg123Ter
NM_001362929.2:c.244C>T	NP_001349858.1:p.Arg82Ter
NM_001362930.2:c.397C>T	NP_001349859.1:p.Arg133Ter
NM_001362932.2:c.244C>T	NP_001349861.1:p.Arg82Ter