Canonical Allele Identifier: CA371548984

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75274122A>T (hg19) ; chr8:g.74361887A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74361887A>T , CM000670.2:g.74361887A>T	GRCh38
NC_000008.10:g.75274122A>T , CM000670.1:g.75274122A>T	GRCh37
NC_000008.9:g.75436677A>T	NCBI36
NG_008787.2:g.45758A>T
NG_008787.3:g.45758A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.488A>T MANE Select	ENSP00000220822.7:p.Gln163Leu
ENST00000434412.3:c.356A>T	ENSP00000417006.3:p.Gln119Leu
ENST00000520797.6:n.599A>T
ENST00000521096.6:n.344A>T
ENST00000522568.2:c.*160A>T	ENSP00000430136.1:n.*160A>T
ENST00000523640.2:c.165+10566A>T	ENSP00000502017.1:n.165+10566A>T
ENST00000524195.2:c.166-1052A>T	ENSP00000502308.1:n.166-1052A>T
ENST00000674612.1:c.161A>T	ENSP00000501864.1:p.Gln54Leu
ENST00000674710.1:c.488A>T	ENSP00000502762.1:p.Gln163Leu
ENST00000674754.1:c.*160A>T	ENSP00000502063.1:n.*160A>T
ENST00000674756.1:c.*160A>T	ENSP00000501860.1:n.*160A>T
ENST00000674806.1:c.161A>T	ENSP00000502637.1:p.Gln54Leu
ENST00000674865.1:c.284A>T	ENSP00000502437.1:p.Gln95Leu
ENST00000674926.1:c.*160A>T	ENSP00000501799.1:n.*160A>T
ENST00000674934.1:c.*176A>T	ENSP00000502187.1:n.*176A>T
ENST00000674944.1:c.*160A>T	ENSP00000501858.1:n.*160A>T
ENST00000674946.1:c.488A>T	ENSP00000501569.1:p.Gln163Leu
ENST00000674973.1:c.182A>T	ENSP00000502447.1:p.Gln61Leu
ENST00000675007.1:c.*160A>T	ENSP00000502119.1:n.*160A>T
ENST00000675060.1:c.*153A>T	ENSP00000501616.1:n.*153A>T
ENST00000675165.1:c.488A>T	ENSP00000502612.1:p.Gln163Leu
ENST00000675220.1:c.161A>T	ENSP00000502588.1:p.Gln54Leu
ENST00000675265.1:c.*160A>T	ENSP00000501848.1:n.*160A>T
ENST00000675336.1:c.169A>T	ENSP00000502120.1:p.Lys57Ter
ENST00000675376.1:c.161A>T	ENSP00000502838.1:p.Gln54Leu
ENST00000675463.1:c.488A>T	ENSP00000502327.1:p.Gln163Leu
ENST00000675472.1:c.121A>T	ENSP00000501946.1:p.Lys41Ter
ENST00000675560.1:c.*160A>T	ENSP00000502118.1:n.*160A>T
ENST00000675565.1:n.305A>T
ENST00000675625.1:c.*160A>T	ENSP00000501626.1:n.*160A>T
ENST00000675633.1:c.488A>T	ENSP00000501785.1:p.Gln163Leu
ENST00000675661.1:c.*160A>T	ENSP00000501958.1:n.*160A>T
ENST00000675706.1:n.555A>T
ENST00000675821.1:c.161A>T	ENSP00000502198.1:p.Gln54Leu
ENST00000675832.1:c.*160A>T	ENSP00000502041.1:n.*160A>T
ENST00000675928.1:c.314A>T	ENSP00000501568.1:p.Gln105Leu
ENST00000675944.1:c.284A>T	ENSP00000502673.1:p.Gln95Leu
ENST00000675999.1:c.488A>T	ENSP00000502572.1:p.Gln163Leu
ENST00000676049.1:c.*390A>T	ENSP00000501912.1:n.*390A>T
ENST00000676112.1:c.488A>T	ENSP00000502295.1:p.Gln163Leu
ENST00000676120.1:c.*160A>T	ENSP00000502036.1:n.*160A>T
ENST00000676143.1:c.161A>T	ENSP00000502828.1:p.Gln54Leu
ENST00000676207.1:c.488A>T	ENSP00000502638.1:p.Gln163Leu
ENST00000676377.1:c.161A>T	ENSP00000502756.1:p.Gln54Leu
ENST00000676415.1:c.488A>T	ENSP00000502665.1:p.Gln163Leu
ENST00000676443.1:c.440A>T	ENSP00000501769.1:p.Gln147Leu
ENST00000220822.11:c.488A>T	ENSP00000220822.7:p.Gln163Leu
ENST00000434412.2:c.284A>T	ENSP00000417006.2:p.Gln95Leu
ENST00000520797.5:n.253A>T
ENST00000521096.5:n.294A>T
ENST00000522568.1:c.*160A>T	ENSP00000430136.1:n.*160A>T
ENST00000524366.5:n.332A>T
NM_001040875.2:c.284A>T	NP_001035808.1:p.Gln95Leu
NM_018972.2:c.488A>T	NP_061845.2:p.Gln163Leu
NR_046346.1:n.422A>T
XM_011517551.1:c.782A>T	XP_011515853.1:p.Gln261Leu
XM_011517552.1:c.161A>T	XP_011515854.1:p.Gln54Leu
NM_001040875.3:c.284A>T	NP_001035808.1:p.Gln95Leu
NM_001362929.1:c.161A>T	NP_001349858.1:p.Gln54Leu
NM_001362930.1:c.314A>T	NP_001349859.1:p.Gln105Leu
NM_001362931.1:c.488A>T	NP_001349860.1:p.Gln163Leu
NM_001362932.1:c.161A>T	NP_001349861.1:p.Gln54Leu
NM_018972.3:c.488A>T	NP_061845.2:p.Gln163Leu
XM_017013586.2:c.488A>T	XP_016869075.2:p.Gln163Leu
NM_001362931.2:c.488A>T	NP_001349860.1:p.Gln163Leu
NM_018972.4:c.488A>T MANE Select	NP_061845.2:p.Gln163Leu
NM_001040875.4:c.284A>T	NP_001035808.1:p.Gln95Leu
NM_001362929.2:c.161A>T	NP_001349858.1:p.Gln54Leu
NM_001362930.2:c.314A>T	NP_001349859.1:p.Gln105Leu
NM_001362932.2:c.161A>T	NP_001349861.1:p.Gln54Leu