Canonical Allele Identifier: CA371548622

Gene: GDAP1

Linked Data

• MyVariant Identifiers: chr8:g.75272453T>C (hg19) ; chr8:g.74360218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74360218T>C , CM000670.2:g.74360218T>C	GRCh38
NC_000008.10:g.75272453T>C , CM000670.1:g.75272453T>C	GRCh37
NC_000008.9:g.75435008T>C	NCBI36
NG_008787.2:g.44089T>C
NG_008787.3:g.44089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.392T>C MANE Select	ENSP00000220822.7:p.Leu131Ser
ENST00000434412.3:c.260T>C	ENSP00000417006.3:p.Leu87Ser
ENST00000520797.6:n.503T>C
ENST00000521096.6:n.341-1666T>C
ENST00000522568.2:c.*64T>C	ENSP00000430136.1:n.*64T>C
ENST00000523640.2:c.165+8897T>C	ENSP00000502017.1:n.165+8897T>C
ENST00000524195.2:c.166-2721T>C	ENSP00000502308.1:n.166-2721T>C
ENST00000674612.1:c.65T>C	ENSP00000501864.1:p.Leu22Ser
ENST00000674710.1:c.392T>C	ENSP00000502762.1:p.Leu131Ser
ENST00000674754.1:c.*64T>C	ENSP00000502063.1:n.*64T>C
ENST00000674756.1:c.*64T>C	ENSP00000501860.1:n.*64T>C
ENST00000674806.1:c.65T>C	ENSP00000502637.1:p.Leu22Ser
ENST00000674865.1:c.188T>C	ENSP00000502437.1:p.Leu63Ser
ENST00000674926.1:c.*64T>C	ENSP00000501799.1:n.*64T>C
ENST00000674934.1:c.*80T>C	ENSP00000502187.1:n.*80T>C
ENST00000674944.1:c.*64T>C	ENSP00000501858.1:n.*64T>C
ENST00000674946.1:c.392T>C	ENSP00000501569.1:p.Leu131Ser
ENST00000674973.1:c.178+69T>C	ENSP00000502447.1:n.178+69T>C
ENST00000675007.1:c.*64T>C	ENSP00000502119.1:n.*64T>C
ENST00000675060.1:c.*57T>C	ENSP00000501616.1:n.*57T>C
ENST00000675165.1:c.392T>C	ENSP00000502612.1:p.Leu131Ser
ENST00000675220.1:c.65T>C	ENSP00000502588.1:p.Leu22Ser
ENST00000675265.1:c.*64T>C	ENSP00000501848.1:n.*64T>C
ENST00000675336.1:c.166-1666T>C	ENSP00000502120.1:n.166-1666T>C
ENST00000675376.1:c.65T>C	ENSP00000502838.1:p.Leu22Ser
ENST00000675463.1:c.392T>C	ENSP00000502327.1:p.Leu131Ser
ENST00000675472.1:c.118-1666T>C	ENSP00000501946.1:n.118-1666T>C
ENST00000675560.1:c.*64T>C	ENSP00000502118.1:n.*64T>C
ENST00000675565.1:n.209T>C
ENST00000675625.1:c.*64T>C	ENSP00000501626.1:n.*64T>C
ENST00000675633.1:c.392T>C	ENSP00000501785.1:p.Leu131Ser
ENST00000675661.1:c.*64T>C	ENSP00000501958.1:n.*64T>C
ENST00000675706.1:n.459T>C
ENST00000675821.1:c.65T>C	ENSP00000502198.1:p.Leu22Ser
ENST00000675832.1:c.*64T>C	ENSP00000502041.1:n.*64T>C
ENST00000675928.1:c.311-1666T>C	ENSP00000501568.1:n.311-1666T>C
ENST00000675944.1:c.188T>C	ENSP00000502673.1:p.Leu63Ser
ENST00000675999.1:c.392T>C	ENSP00000502572.1:p.Leu131Ser
ENST00000676049.1:c.*294T>C	ENSP00000501912.1:n.*294T>C
ENST00000676112.1:c.392T>C	ENSP00000502295.1:p.Leu131Ser
ENST00000676120.1:c.*64T>C	ENSP00000502036.1:n.*64T>C
ENST00000676143.1:c.65T>C	ENSP00000502828.1:p.Leu22Ser
ENST00000676207.1:c.392T>C	ENSP00000502638.1:p.Leu131Ser
ENST00000676377.1:c.65T>C	ENSP00000502756.1:p.Leu22Ser
ENST00000676415.1:c.392T>C	ENSP00000502665.1:p.Leu131Ser
ENST00000676443.1:c.344T>C	ENSP00000501769.1:p.Leu115Ser
ENST00000220822.11:c.392T>C	ENSP00000220822.7:p.Leu131Ser
ENST00000434412.2:c.188T>C	ENSP00000417006.2:p.Leu63Ser
ENST00000520797.5:n.157T>C
ENST00000521096.5:n.198T>C
ENST00000522568.1:c.*64T>C	ENSP00000430136.1:n.*64T>C
ENST00000523640.1:n.227T>C
ENST00000524366.5:n.329-1666T>C
NM_001040875.2:c.188T>C	NP_001035808.1:p.Leu63Ser
NM_018972.2:c.392T>C	NP_061845.2:p.Leu131Ser
NR_046346.1:n.326T>C
XM_011517551.1:c.779-1666T>C	XP_011515853.1:n.779-1666T>C
XM_011517552.1:c.65T>C	XP_011515854.1:p.Leu22Ser
NM_001040875.3:c.188T>C	NP_001035808.1:p.Leu63Ser
NM_001362929.1:c.65T>C	NP_001349858.1:p.Leu22Ser
NM_001362930.1:c.311-1666T>C	NP_001349859.1:n.311-1666T>C
NM_001362931.1:c.392T>C	NP_001349860.1:p.Leu131Ser
NM_001362932.1:c.65T>C	NP_001349861.1:p.Leu22Ser
NM_018972.3:c.392T>C	NP_061845.2:p.Leu131Ser
XM_017013586.2:c.392T>C	XP_016869075.2:p.Leu131Ser
NM_001362931.2:c.392T>C	NP_001349860.1:p.Leu131Ser
NM_018972.4:c.392T>C MANE Select	NP_061845.2:p.Leu131Ser
NM_001040875.4:c.188T>C	NP_001035808.1:p.Leu63Ser
NM_001362929.2:c.65T>C	NP_001349858.1:p.Leu22Ser
NM_001362930.2:c.311-1666T>C	NP_001349859.1:n.311-1666T>C
NM_001362932.2:c.65T>C	NP_001349861.1:p.Leu22Ser