Canonical Allele Identifier: CA371550321

Gene: GDAP1

Linked Data

• dbSNP Id: rs1563445213
• MyVariant Identifiers: chr8:g.75276345C>T (hg19) ; chr8:g.74364110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364110C>T , CM000670.2:g.74364110C>T	GRCh38
NC_000008.10:g.75276345C>T , CM000670.1:g.75276345C>T	GRCh37
NC_000008.9:g.75438900C>T	NCBI36
NG_008787.2:g.47981C>T
NG_008787.3:g.47981C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.820C>T MANE Select	ENSP00000220822.7:p.Pro274Ser
ENST00000434412.3:c.688C>T	ENSP00000417006.3:p.Pro230Ser
ENST00000520797.6:n.931C>T
ENST00000521096.6:n.676C>T
ENST00000522568.2:c.*492C>T	ENSP00000430136.1:n.*492C>T
ENST00000523640.2:c.165+12789C>T	ENSP00000502017.1:n.165+12789C>T
ENST00000524195.2:c.280+1057C>T	ENSP00000502308.1:n.280+1057C>T
ENST00000674612.1:c.493C>T	ENSP00000501864.1:p.Pro165Ser
ENST00000674710.1:c.694+1057C>T	ENSP00000502762.1:n.694+1057C>T
ENST00000674754.1:c.*2383C>T	ENSP00000502063.1:n.*2383C>T
ENST00000674756.1:c.*366+1057C>T	ENSP00000501860.1:n.*366+1057C>T
ENST00000674806.1:c.493C>T	ENSP00000502637.1:p.Pro165Ser
ENST00000674865.1:c.616C>T	ENSP00000502437.1:p.Pro206Ser
ENST00000674926.1:c.*1452C>T	ENSP00000501799.1:n.*1452C>T
ENST00000674934.1:c.*508C>T	ENSP00000502187.1:n.*508C>T
ENST00000674944.1:c.*1423C>T	ENSP00000501858.1:n.*1423C>T
ENST00000674946.1:c.694+1057C>T	ENSP00000501569.1:n.694+1057C>T
ENST00000674973.1:c.514C>T	ENSP00000502447.1:p.Pro172Ser
ENST00000675007.1:c.*558C>T	ENSP00000502119.1:n.*558C>T
ENST00000675060.1:c.*485C>T	ENSP00000501616.1:n.*485C>T
ENST00000675165.1:c.817C>T	ENSP00000502612.1:p.Pro273Ser
ENST00000675220.1:c.493C>T	ENSP00000502588.1:p.Pro165Ser
ENST00000675265.1:c.*570C>T	ENSP00000501848.1:n.*570C>T
ENST00000675336.1:c.*306C>T	ENSP00000502120.1:n.*306C>T
ENST00000675376.1:c.493C>T	ENSP00000502838.1:p.Pro165Ser
ENST00000675463.1:c.898C>T	ENSP00000502327.1:p.Pro300Ser
ENST00000675472.1:c.*306C>T	ENSP00000501946.1:n.*306C>T
ENST00000675474.1:n.405C>T
ENST00000675560.1:c.*366+1057C>T	ENSP00000502118.1:n.*366+1057C>T
ENST00000675625.1:c.*492C>T	ENSP00000501626.1:n.*492C>T
ENST00000675633.1:c.*227C>T	ENSP00000501785.1:n.*227C>T
ENST00000675661.1:c.*580C>T	ENSP00000501958.1:n.*580C>T
ENST00000675706.1:n.2778C>T
ENST00000675821.1:c.493C>T	ENSP00000502198.1:p.Pro165Ser
ENST00000675832.1:c.*492C>T	ENSP00000502041.1:n.*492C>T
ENST00000675928.1:c.646C>T	ENSP00000501568.1:p.Pro216Ser
ENST00000675944.1:c.616C>T	ENSP00000502673.1:p.Pro206Ser
ENST00000675999.1:c.694+1057C>T	ENSP00000502572.1:n.694+1057C>T
ENST00000676049.1:c.*722C>T	ENSP00000501912.1:n.*722C>T
ENST00000676112.1:c.886C>T	ENSP00000502295.1:p.Pro296Ser
ENST00000676143.1:c.493C>T	ENSP00000502828.1:p.Pro165Ser
ENST00000676207.1:c.694+1057C>T	ENSP00000502638.1:n.694+1057C>T
ENST00000676377.1:c.493C>T	ENSP00000502756.1:p.Pro165Ser
ENST00000676415.1:c.*126C>T	ENSP00000502665.1:n.*126C>T
ENST00000676443.1:c.772C>T	ENSP00000501769.1:p.Pro258Ser
ENST00000220822.11:c.820C>T	ENSP00000220822.7:p.Pro274Ser
ENST00000434412.2:c.616C>T	ENSP00000417006.2:p.Pro206Ser
ENST00000520797.5:n.585C>T
ENST00000521096.5:n.626C>T
ENST00000522568.1:c.*492C>T	ENSP00000430136.1:n.*492C>T
ENST00000524195.1:n.103+1057C>T
NM_001040875.2:c.616C>T	NP_001035808.1:p.Pro206Ser
NM_018972.2:c.820C>T	NP_061845.2:p.Pro274Ser
NR_046346.1:n.754C>T
XM_011517551.1:c.1114C>T	XP_011515853.1:p.Pro372Ser
XM_011517552.1:c.493C>T	XP_011515854.1:p.Pro165Ser
NM_001040875.3:c.616C>T	NP_001035808.1:p.Pro206Ser
NM_001362929.1:c.493C>T	NP_001349858.1:p.Pro165Ser
NM_001362930.1:c.646C>T	NP_001349859.1:p.Pro216Ser
NM_001362931.1:c.694+1057C>T	NP_001349860.1:n.694+1057C>T
NM_001362932.1:c.493C>T	NP_001349861.1:p.Pro165Ser
NM_018972.3:c.820C>T	NP_061845.2:p.Pro274Ser
NM_001362931.2:c.694+1057C>T	NP_001349860.1:n.694+1057C>T
NM_018972.4:c.820C>T MANE Select	NP_061845.2:p.Pro274Ser
NM_001040875.4:c.616C>T	NP_001035808.1:p.Pro206Ser
NM_001362929.2:c.493C>T	NP_001349858.1:p.Pro165Ser
NM_001362930.2:c.646C>T	NP_001349859.1:p.Pro216Ser
NM_001362932.2:c.493C>T	NP_001349861.1:p.Pro165Ser