Canonical Allele Identifier: CA1706230

Gene: DYSF

Linked Data

• ClinVar Variation Id: 336960
• ClinVar RCV Id: RCV000286988 ; RCV000323409 ; RCV001240549 ; RCV001828332 ; RCV003144230 ; RCV003258773
• dbSNP Id: rs143632564
• ExAC: 2:71795105 G / A
• gnomAD v2: 2-71795105-G-A
• gnomAD v3: 2-71567975-G-A
• gnomAD v4: 2-71567975-G-A
• MyVariant Identifiers: chr2:g.71795105G>A (hg19) ; chr2:g.71567975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71567975G>A , CM000664.2:g.71567975G>A	GRCh38
NC_000002.11:g.71795105G>A , CM000664.1:g.71795105G>A	GRCh37
NC_000002.10:g.71648613G>A	NCBI36
NG_008694.1:g.119353G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258104.8:c.2536G>A MANE Plus Clinical	ENSP00000258104.3:p.Ala846Thr
ENST00000410020.8:c.2590G>A MANE Select	ENSP00000386881.3:p.Ala864Thr
ENST00000258104.7:c.2536G>A	ENSP00000258104.3:p.Ala846Thr
ENST00000394120.6:c.2539G>A	ENSP00000377678.2:p.Ala847Thr
ENST00000409366.5:c.2539G>A	ENSP00000386512.1:p.Ala847Thr
ENST00000409582.7:c.2587G>A	ENSP00000386547.3:p.Ala863Thr
ENST00000409651.5:c.2632G>A	ENSP00000386683.1:p.Ala878Thr
ENST00000409744.5:c.2497G>A	ENSP00000386285.1:p.Ala833Thr
ENST00000409762.5:c.2587G>A	ENSP00000387137.1:p.Ala863Thr
ENST00000410020.7:c.2590G>A	ENSP00000386881.3:p.Ala864Thr
ENST00000410041.1:c.2590G>A	ENSP00000386617.1:p.Ala864Thr
ENST00000413539.6:c.2629G>A	ENSP00000407046.2:p.Ala877Thr
ENST00000429174.6:c.2536G>A	ENSP00000398305.2:p.Ala846Thr
NM_001130455.1:c.2539G>A	NP_001123927.1:p.Ala847Thr
NM_001130976.1:c.2494G>A	NP_001124448.1:p.Ala832Thr
NM_001130977.1:c.2494G>A	NP_001124449.1:p.Ala832Thr
NM_001130978.1:c.2536G>A	NP_001124450.1:p.Ala846Thr
NM_001130979.1:c.2629G>A	NP_001124451.1:p.Ala877Thr
NM_001130980.1:c.2587G>A	NP_001124452.1:p.Ala863Thr
NM_001130981.1:c.2587G>A	NP_001124453.1:p.Ala863Thr
NM_001130982.1:c.2632G>A	NP_001124454.1:p.Ala878Thr
NM_001130983.1:c.2539G>A	NP_001124455.1:p.Ala847Thr
NM_001130984.1:c.2497G>A	NP_001124456.1:p.Ala833Thr
NM_001130985.1:c.2590G>A	NP_001124457.1:p.Ala864Thr
NM_001130986.1:c.2497G>A	NP_001124458.1:p.Ala833Thr
NM_001130987.1:c.2590G>A	NP_001124459.1:p.Ala864Thr
NM_003494.3:c.2536G>A	NP_003485.1:p.Ala846Thr
XM_005264584.3:c.2632G>A	XP_005264641.1:p.Ala878Thr
XM_005264585.3:c.2629G>A	XP_005264642.1:p.Ala877Thr
XM_005264584.4:c.2632G>A	XP_005264641.1:p.Ala878Thr
XM_005264585.5:c.2629G>A	XP_005264642.1:p.Ala877Thr
XR_001738969.1:n.2790G>A
NM_001130987.2:c.2590G>A MANE Select	NP_001124459.1:p.Ala864Thr
NM_001130455.2:c.2539G>A	NP_001123927.1:p.Ala847Thr
NM_001130976.2:c.2494G>A	NP_001124448.1:p.Ala832Thr
NM_001130977.2:c.2494G>A	NP_001124449.1:p.Ala832Thr
NM_001130978.2:c.2536G>A	NP_001124450.1:p.Ala846Thr
NM_001130979.2:c.2629G>A	NP_001124451.1:p.Ala877Thr
NM_001130980.2:c.2587G>A	NP_001124452.1:p.Ala863Thr
NM_001130981.2:c.2587G>A	NP_001124453.1:p.Ala863Thr
NM_001130982.2:c.2632G>A	NP_001124454.1:p.Ala878Thr
NM_001130983.2:c.2539G>A	NP_001124455.1:p.Ala847Thr
NM_001130984.2:c.2497G>A	NP_001124456.1:p.Ala833Thr
NM_001130985.2:c.2590G>A	NP_001124457.1:p.Ala864Thr
NM_001130986.2:c.2497G>A	NP_001124458.1:p.Ala833Thr
NM_003494.4:c.2536G>A MANE Plus Clinical	NP_003485.1:p.Ala846Thr