Canonical Allele Identifier: CA371550366

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 661259
• ClinVar RCV Id: RCV000818644
• dbSNP Id: rs1417699318
• MyVariant Identifiers: chr8:g.75276364A>C (hg19) ; chr8:g.74364129A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364129A>C , CM000670.2:g.74364129A>C	GRCh38
NC_000008.10:g.75276364A>C , CM000670.1:g.75276364A>C	GRCh37
NC_000008.9:g.75438919A>C	NCBI36
NG_008787.2:g.48000A>C
NG_008787.3:g.48000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.839A>C MANE Select	ENSP00000220822.7:p.Tyr280Ser
ENST00000434412.3:c.707A>C	ENSP00000417006.3:p.Tyr236Ser
ENST00000520797.6:n.950A>C
ENST00000521096.6:n.695A>C
ENST00000522568.2:c.*511A>C	ENSP00000430136.1:n.*511A>C
ENST00000523640.2:c.165+12808A>C	ENSP00000502017.1:n.165+12808A>C
ENST00000524195.2:c.280+1076A>C	ENSP00000502308.1:n.280+1076A>C
ENST00000674612.1:c.512A>C	ENSP00000501864.1:p.Tyr171Ser
ENST00000674710.1:c.694+1076A>C	ENSP00000502762.1:n.694+1076A>C
ENST00000674754.1:c.*2402A>C	ENSP00000502063.1:n.*2402A>C
ENST00000674756.1:c.*366+1076A>C	ENSP00000501860.1:n.*366+1076A>C
ENST00000674806.1:c.512A>C	ENSP00000502637.1:p.Tyr171Ser
ENST00000674865.1:c.635A>C	ENSP00000502437.1:p.Tyr212Ser
ENST00000674926.1:c.*1471A>C	ENSP00000501799.1:n.*1471A>C
ENST00000674934.1:c.*527A>C	ENSP00000502187.1:n.*527A>C
ENST00000674944.1:c.*1442A>C	ENSP00000501858.1:n.*1442A>C
ENST00000674946.1:c.694+1076A>C	ENSP00000501569.1:n.694+1076A>C
ENST00000674973.1:c.533A>C	ENSP00000502447.1:p.Tyr178Ser
ENST00000675007.1:c.*577A>C	ENSP00000502119.1:n.*577A>C
ENST00000675060.1:c.*504A>C	ENSP00000501616.1:n.*504A>C
ENST00000675165.1:c.836A>C	ENSP00000502612.1:p.Tyr279Ser
ENST00000675220.1:c.512A>C	ENSP00000502588.1:p.Tyr171Ser
ENST00000675265.1:c.*589A>C	ENSP00000501848.1:n.*589A>C
ENST00000675336.1:c.*325A>C	ENSP00000502120.1:n.*325A>C
ENST00000675376.1:c.512A>C	ENSP00000502838.1:p.Tyr171Ser
ENST00000675463.1:c.917A>C	ENSP00000502327.1:p.Tyr306Ser
ENST00000675472.1:c.*325A>C	ENSP00000501946.1:n.*325A>C
ENST00000675474.1:n.424A>C
ENST00000675560.1:c.*366+1076A>C	ENSP00000502118.1:n.*366+1076A>C
ENST00000675625.1:c.*511A>C	ENSP00000501626.1:n.*511A>C
ENST00000675633.1:c.*246A>C	ENSP00000501785.1:n.*246A>C
ENST00000675661.1:c.*599A>C	ENSP00000501958.1:n.*599A>C
ENST00000675706.1:n.2797A>C
ENST00000675821.1:c.512A>C	ENSP00000502198.1:p.Tyr171Ser
ENST00000675832.1:c.*511A>C	ENSP00000502041.1:n.*511A>C
ENST00000675928.1:c.665A>C	ENSP00000501568.1:p.Tyr222Ser
ENST00000675944.1:c.635A>C	ENSP00000502673.1:p.Tyr212Ser
ENST00000675999.1:c.694+1076A>C	ENSP00000502572.1:n.694+1076A>C
ENST00000676049.1:c.*741A>C	ENSP00000501912.1:n.*741A>C
ENST00000676112.1:c.905A>C	ENSP00000502295.1:p.Tyr302Ser
ENST00000676143.1:c.512A>C	ENSP00000502828.1:p.Tyr171Ser
ENST00000676207.1:c.694+1076A>C	ENSP00000502638.1:n.694+1076A>C
ENST00000676377.1:c.512A>C	ENSP00000502756.1:p.Tyr171Ser
ENST00000676415.1:c.*145A>C	ENSP00000502665.1:n.*145A>C
ENST00000676443.1:c.791A>C	ENSP00000501769.1:p.Tyr264Ser
ENST00000220822.11:c.839A>C	ENSP00000220822.7:p.Tyr280Ser
ENST00000434412.2:c.635A>C	ENSP00000417006.2:p.Tyr212Ser
ENST00000520797.5:n.604A>C
ENST00000521096.5:n.645A>C
ENST00000522568.1:c.*511A>C	ENSP00000430136.1:n.*511A>C
ENST00000524195.1:n.103+1076A>C
NM_001040875.2:c.635A>C	NP_001035808.1:p.Tyr212Ser
NM_018972.2:c.839A>C	NP_061845.2:p.Tyr280Ser
NR_046346.1:n.773A>C
XM_011517551.1:c.1133A>C	XP_011515853.1:p.Tyr378Ser
XM_011517552.1:c.512A>C	XP_011515854.1:p.Tyr171Ser
NM_001040875.3:c.635A>C	NP_001035808.1:p.Tyr212Ser
NM_001362929.1:c.512A>C	NP_001349858.1:p.Tyr171Ser
NM_001362930.1:c.665A>C	NP_001349859.1:p.Tyr222Ser
NM_001362931.1:c.694+1076A>C	NP_001349860.1:n.694+1076A>C
NM_001362932.1:c.512A>C	NP_001349861.1:p.Tyr171Ser
NM_018972.3:c.839A>C	NP_061845.2:p.Tyr280Ser
NM_001362931.2:c.694+1076A>C	NP_001349860.1:n.694+1076A>C
NM_018972.4:c.839A>C MANE Select	NP_061845.2:p.Tyr280Ser
NM_001040875.4:c.635A>C	NP_001035808.1:p.Tyr212Ser
NM_001362929.2:c.512A>C	NP_001349858.1:p.Tyr171Ser
NM_001362930.2:c.665A>C	NP_001349859.1:p.Tyr222Ser
NM_001362932.2:c.512A>C	NP_001349861.1:p.Tyr171Ser