Canonical Allele Identifier: CA1706239

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71568028T>G , CM000664.2:g.71568028T>G	GRCh38
NC_000002.11:g.71795158T>G , CM000664.1:g.71795158T>G	GRCh37
NC_000002.10:g.71648666T>G	NCBI36
NG_008694.1:g.119406T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.2643T>G MANE Select	NP_001124459.1:p.Asp881Glu
ENST00000410020.8:c.2643T>G MANE Select	ENSP00000386881.3:p.Asp881Glu
NM_003494.4:c.2589T>G MANE Plus Clinical	NP_003485.1:p.Asp863Glu
ENST00000258104.8:c.2589T>G MANE Plus Clinical	ENSP00000258104.3:p.Asp863Glu
NM_001130455.1:c.2592T>G	NP_001123927.1:p.Asp864Glu
NM_001130455.2:c.2592T>G	NP_001123927.1:p.Asp864Glu
NM_001130976.1:c.2547T>G	NP_001124448.1:p.Asp849Glu
NM_001130976.2:c.2547T>G	NP_001124448.1:p.Asp849Glu
NM_001130977.1:c.2547T>G	NP_001124449.1:p.Asp849Glu
NM_001130977.2:c.2547T>G	NP_001124449.1:p.Asp849Glu
NM_001130978.1:c.2589T>G	NP_001124450.1:p.Asp863Glu
NM_001130978.2:c.2589T>G	NP_001124450.1:p.Asp863Glu
NM_001130979.1:c.2682T>G	NP_001124451.1:p.Asp894Glu
NM_001130979.2:c.2682T>G	NP_001124451.1:p.Asp894Glu
NM_001130980.1:c.2640T>G	NP_001124452.1:p.Asp880Glu
NM_001130980.2:c.2640T>G	NP_001124452.1:p.Asp880Glu
NM_001130981.1:c.2640T>G	NP_001124453.1:p.Asp880Glu
NM_001130981.2:c.2640T>G	NP_001124453.1:p.Asp880Glu
NM_001130982.1:c.2685T>G	NP_001124454.1:p.Asp895Glu
NM_001130982.2:c.2685T>G	NP_001124454.1:p.Asp895Glu
NM_001130983.1:c.2592T>G	NP_001124455.1:p.Asp864Glu
NM_001130983.2:c.2592T>G	NP_001124455.1:p.Asp864Glu
NM_001130984.1:c.2550T>G	NP_001124456.1:p.Asp850Glu
NM_001130984.2:c.2550T>G	NP_001124456.1:p.Asp850Glu
NM_001130985.1:c.2643T>G	NP_001124457.1:p.Asp881Glu
NM_001130985.2:c.2643T>G	NP_001124457.1:p.Asp881Glu
NM_001130986.1:c.2550T>G	NP_001124458.1:p.Asp850Glu
NM_001130986.2:c.2550T>G	NP_001124458.1:p.Asp850Glu
NM_001130987.1:c.2643T>G	NP_001124459.1:p.Asp881Glu
NM_003494.3:c.2589T>G	NP_003485.1:p.Asp863Glu
ENST00000258104.7:c.2589T>G	ENSP00000258104.3:p.Asp863Glu
ENST00000394120.6:c.2592T>G	ENSP00000377678.2:p.Asp864Glu
ENST00000409366.5:c.2592T>G	ENSP00000386512.1:p.Asp864Glu
ENST00000409582.7:c.2640T>G	ENSP00000386547.3:p.Asp880Glu
ENST00000409651.5:c.2685T>G	ENSP00000386683.1:p.Asp895Glu
ENST00000409744.5:c.2550T>G	ENSP00000386285.1:p.Asp850Glu
ENST00000409762.5:c.2640T>G	ENSP00000387137.1:p.Asp880Glu
ENST00000410020.7:c.2643T>G	ENSP00000386881.3:p.Asp881Glu
ENST00000410041.1:c.2643T>G	ENSP00000386617.1:p.Asp881Glu
ENST00000413539.6:c.2682T>G	ENSP00000407046.2:p.Asp894Glu
ENST00000429174.6:c.2589T>G	ENSP00000398305.2:p.Asp863Glu
ENST00000698057.1:c.15T>G	ENSP00000513536.1:p.Asp5Glu
XM_005264584.3:c.2685T>G	XP_005264641.1:p.Asp895Glu
XM_005264584.4:c.2685T>G	XP_005264641.1:p.Asp895Glu
XM_005264585.3:c.2682T>G	XP_005264642.1:p.Asp894Glu
XM_005264585.5:c.2682T>G	XP_005264642.1:p.Asp894Glu
XR_001738969.1:n.2843T>G