Canonical Allele Identifier: CA371550198

Gene: GDAP1

Linked Data

• dbSNP Id: rs1156852340
• gnomAD v2: 8-75276305-C-G
• gnomAD v3: 8-74364070-C-G
• gnomAD v4: 8-74364070-C-G
• MyVariant Identifiers: chr8:g.75276305C>G (hg19) ; chr8:g.74364070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364070C>G , CM000670.2:g.74364070C>G	GRCh38
NC_000008.10:g.75276305C>G , CM000670.1:g.75276305C>G	GRCh37
NC_000008.9:g.75438860C>G	NCBI36
NG_008787.2:g.47941C>G
NG_008787.3:g.47941C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.780C>G MANE Select	ENSP00000220822.7:p.Phe260Leu
ENST00000434412.3:c.648C>G	ENSP00000417006.3:p.Phe216Leu
ENST00000520797.6:n.891C>G
ENST00000521096.6:n.636C>G
ENST00000522568.2:c.*452C>G	ENSP00000430136.1:n.*452C>G
ENST00000523640.2:c.165+12749C>G	ENSP00000502017.1:n.165+12749C>G
ENST00000524195.2:c.280+1017C>G	ENSP00000502308.1:n.280+1017C>G
ENST00000674612.1:c.453C>G	ENSP00000501864.1:p.Phe151Leu
ENST00000674710.1:c.694+1017C>G	ENSP00000502762.1:n.694+1017C>G
ENST00000674754.1:c.*2343C>G	ENSP00000502063.1:n.*2343C>G
ENST00000674756.1:c.*366+1017C>G	ENSP00000501860.1:n.*366+1017C>G
ENST00000674806.1:c.453C>G	ENSP00000502637.1:p.Phe151Leu
ENST00000674865.1:c.576C>G	ENSP00000502437.1:p.Phe192Leu
ENST00000674926.1:c.*1412C>G	ENSP00000501799.1:n.*1412C>G
ENST00000674934.1:c.*468C>G	ENSP00000502187.1:n.*468C>G
ENST00000674944.1:c.*1383C>G	ENSP00000501858.1:n.*1383C>G
ENST00000674946.1:c.694+1017C>G	ENSP00000501569.1:n.694+1017C>G
ENST00000674973.1:c.474C>G	ENSP00000502447.1:p.Phe158Leu
ENST00000675007.1:c.*518C>G	ENSP00000502119.1:n.*518C>G
ENST00000675060.1:c.*445C>G	ENSP00000501616.1:n.*445C>G
ENST00000675165.1:c.777C>G	ENSP00000502612.1:p.Phe259Leu
ENST00000675220.1:c.453C>G	ENSP00000502588.1:p.Phe151Leu
ENST00000675265.1:c.*530C>G	ENSP00000501848.1:n.*530C>G
ENST00000675336.1:c.*266C>G	ENSP00000502120.1:n.*266C>G
ENST00000675376.1:c.453C>G	ENSP00000502838.1:p.Phe151Leu
ENST00000675463.1:c.858C>G	ENSP00000502327.1:p.Phe286Leu
ENST00000675472.1:c.*266C>G	ENSP00000501946.1:n.*266C>G
ENST00000675474.1:n.365C>G
ENST00000675560.1:c.*366+1017C>G	ENSP00000502118.1:n.*366+1017C>G
ENST00000675625.1:c.*452C>G	ENSP00000501626.1:n.*452C>G
ENST00000675633.1:c.*187C>G	ENSP00000501785.1:n.*187C>G
ENST00000675661.1:c.*540C>G	ENSP00000501958.1:n.*540C>G
ENST00000675706.1:n.2738C>G
ENST00000675821.1:c.453C>G	ENSP00000502198.1:p.Phe151Leu
ENST00000675832.1:c.*452C>G	ENSP00000502041.1:n.*452C>G
ENST00000675928.1:c.606C>G	ENSP00000501568.1:p.Phe202Leu
ENST00000675944.1:c.576C>G	ENSP00000502673.1:p.Phe192Leu
ENST00000675999.1:c.694+1017C>G	ENSP00000502572.1:n.694+1017C>G
ENST00000676049.1:c.*682C>G	ENSP00000501912.1:n.*682C>G
ENST00000676112.1:c.846C>G	ENSP00000502295.1:p.Phe282Leu
ENST00000676143.1:c.453C>G	ENSP00000502828.1:p.Phe151Leu
ENST00000676207.1:c.694+1017C>G	ENSP00000502638.1:n.694+1017C>G
ENST00000676377.1:c.453C>G	ENSP00000502756.1:p.Phe151Leu
ENST00000676415.1:c.*86C>G	ENSP00000502665.1:n.*86C>G
ENST00000676443.1:c.732C>G	ENSP00000501769.1:p.Phe244Leu
ENST00000220822.11:c.780C>G	ENSP00000220822.7:p.Phe260Leu
ENST00000434412.2:c.576C>G	ENSP00000417006.2:p.Phe192Leu
ENST00000520797.5:n.545C>G
ENST00000521096.5:n.586C>G
ENST00000522568.1:c.*452C>G	ENSP00000430136.1:n.*452C>G
ENST00000524195.1:n.103+1017C>G
NM_001040875.2:c.576C>G	NP_001035808.1:p.Phe192Leu
NM_018972.2:c.780C>G	NP_061845.2:p.Phe260Leu
NR_046346.1:n.714C>G
XM_011517551.1:c.1074C>G	XP_011515853.1:p.Phe358Leu
XM_011517552.1:c.453C>G	XP_011515854.1:p.Phe151Leu
NM_001040875.3:c.576C>G	NP_001035808.1:p.Phe192Leu
NM_001362929.1:c.453C>G	NP_001349858.1:p.Phe151Leu
NM_001362930.1:c.606C>G	NP_001349859.1:p.Phe202Leu
NM_001362931.1:c.694+1017C>G	NP_001349860.1:n.694+1017C>G
NM_001362932.1:c.453C>G	NP_001349861.1:p.Phe151Leu
NM_018972.3:c.780C>G	NP_061845.2:p.Phe260Leu
NM_001362931.2:c.694+1017C>G	NP_001349860.1:n.694+1017C>G
NM_018972.4:c.780C>G MANE Select	NP_061845.2:p.Phe260Leu
NM_001040875.4:c.576C>G	NP_001035808.1:p.Phe192Leu
NM_001362929.2:c.453C>G	NP_001349858.1:p.Phe151Leu
NM_001362930.2:c.606C>G	NP_001349859.1:p.Phe202Leu
NM_001362932.2:c.453C>G	NP_001349861.1:p.Phe151Leu