Canonical Allele Identifier: CA253038

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 4199
• ClinVar RCV Id: RCV000004419 ; RCV001533514 ; RCV000798174
• dbSNP Id: rs104894079
• MyVariant Identifiers: chr8:g.75272530A>C (hg19) ; chr8:g.74360295A>C (hg38)
• PubMed: PMID:15805163

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74360295A>C , CM000670.2:g.74360295A>C	GRCh38
NC_000008.10:g.75272530A>C , CM000670.1:g.75272530A>C	GRCh37
NC_000008.9:g.75435085A>C	NCBI36
NG_008787.2:g.44166A>C
NG_008787.3:g.44166A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.469A>C MANE Select	ENSP00000220822.7:p.Thr157Pro
ENST00000434412.3:c.337A>C	ENSP00000417006.3:p.Thr113Pro
ENST00000520797.6:n.580A>C
ENST00000521096.6:n.341-1589A>C
ENST00000522568.2:c.*141A>C	ENSP00000430136.1:n.*141A>C
ENST00000523640.2:c.165+8974A>C	ENSP00000502017.1:n.165+8974A>C
ENST00000524195.2:c.166-2644A>C	ENSP00000502308.1:n.166-2644A>C
ENST00000674612.1:c.142A>C	ENSP00000501864.1:p.Thr48Pro
ENST00000674710.1:c.469A>C	ENSP00000502762.1:p.Thr157Pro
ENST00000674754.1:c.*141A>C	ENSP00000502063.1:n.*141A>C
ENST00000674756.1:c.*141A>C	ENSP00000501860.1:n.*141A>C
ENST00000674806.1:c.142A>C	ENSP00000502637.1:p.Thr48Pro
ENST00000674865.1:c.265A>C	ENSP00000502437.1:p.Thr89Pro
ENST00000674926.1:c.*141A>C	ENSP00000501799.1:n.*141A>C
ENST00000674934.1:c.*157A>C	ENSP00000502187.1:n.*157A>C
ENST00000674944.1:c.*141A>C	ENSP00000501858.1:n.*141A>C
ENST00000674946.1:c.469A>C	ENSP00000501569.1:p.Thr157Pro
ENST00000674973.1:c.178+146A>C	ENSP00000502447.1:n.178+146A>C
ENST00000675007.1:c.*141A>C	ENSP00000502119.1:n.*141A>C
ENST00000675060.1:c.*134A>C	ENSP00000501616.1:n.*134A>C
ENST00000675165.1:c.469A>C	ENSP00000502612.1:p.Thr157Pro
ENST00000675220.1:c.142A>C	ENSP00000502588.1:p.Thr48Pro
ENST00000675265.1:c.*141A>C	ENSP00000501848.1:n.*141A>C
ENST00000675336.1:c.166-1589A>C	ENSP00000502120.1:n.166-1589A>C
ENST00000675376.1:c.142A>C	ENSP00000502838.1:p.Thr48Pro
ENST00000675463.1:c.469A>C	ENSP00000502327.1:p.Thr157Pro
ENST00000675472.1:c.118-1589A>C	ENSP00000501946.1:n.118-1589A>C
ENST00000675560.1:c.*141A>C	ENSP00000502118.1:n.*141A>C
ENST00000675565.1:n.286A>C
ENST00000675625.1:c.*141A>C	ENSP00000501626.1:n.*141A>C
ENST00000675633.1:c.469A>C	ENSP00000501785.1:p.Thr157Pro
ENST00000675661.1:c.*141A>C	ENSP00000501958.1:n.*141A>C
ENST00000675706.1:n.536A>C
ENST00000675821.1:c.142A>C	ENSP00000502198.1:p.Thr48Pro
ENST00000675832.1:c.*141A>C	ENSP00000502041.1:n.*141A>C
ENST00000675928.1:c.311-1589A>C	ENSP00000501568.1:n.311-1589A>C
ENST00000675944.1:c.265A>C	ENSP00000502673.1:p.Thr89Pro
ENST00000675999.1:c.469A>C	ENSP00000502572.1:p.Thr157Pro
ENST00000676049.1:c.*371A>C	ENSP00000501912.1:n.*371A>C
ENST00000676112.1:c.469A>C	ENSP00000502295.1:p.Thr157Pro
ENST00000676120.1:c.*141A>C	ENSP00000502036.1:n.*141A>C
ENST00000676143.1:c.142A>C	ENSP00000502828.1:p.Thr48Pro
ENST00000676207.1:c.469A>C	ENSP00000502638.1:p.Thr157Pro
ENST00000676377.1:c.142A>C	ENSP00000502756.1:p.Thr48Pro
ENST00000676415.1:c.469A>C	ENSP00000502665.1:p.Thr157Pro
ENST00000676443.1:c.421A>C	ENSP00000501769.1:p.Thr141Pro
ENST00000220822.11:c.469A>C	ENSP00000220822.7:p.Thr157Pro
ENST00000434412.2:c.265A>C	ENSP00000417006.2:p.Thr89Pro
ENST00000520797.5:n.234A>C
ENST00000521096.5:n.275A>C
ENST00000522568.1:c.*141A>C	ENSP00000430136.1:n.*141A>C
ENST00000524366.5:n.329-1589A>C
NM_001040875.2:c.265A>C	NP_001035808.1:p.Thr89Pro
NM_018972.2:c.469A>C	NP_061845.2:p.Thr157Pro
NR_046346.1:n.403A>C
XM_011517551.1:c.779-1589A>C	XP_011515853.1:n.779-1589A>C
XM_011517552.1:c.142A>C	XP_011515854.1:p.Thr48Pro
NM_001040875.3:c.265A>C	NP_001035808.1:p.Thr89Pro
NM_001362929.1:c.142A>C	NP_001349858.1:p.Thr48Pro
NM_001362930.1:c.311-1589A>C	NP_001349859.1:n.311-1589A>C
NM_001362931.1:c.469A>C	NP_001349860.1:p.Thr157Pro
NM_001362932.1:c.142A>C	NP_001349861.1:p.Thr48Pro
NM_018972.3:c.469A>C	NP_061845.2:p.Thr157Pro
XM_017013586.2:c.469A>C	XP_016869075.2:p.Thr157Pro
NM_001362931.2:c.469A>C	NP_001349860.1:p.Thr157Pro
NM_018972.4:c.469A>C MANE Select	NP_061845.2:p.Thr157Pro
NM_001040875.4:c.265A>C	NP_001035808.1:p.Thr89Pro
NM_001362929.2:c.142A>C	NP_001349858.1:p.Thr48Pro
NM_001362930.2:c.311-1589A>C	NP_001349859.1:n.311-1589A>C
NM_001362932.2:c.142A>C	NP_001349861.1:p.Thr48Pro