Canonical Allele Identifier: CA347226922

Gene: DYSF

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71681111G>A , CM000664.2:g.71681111G>A	GRCh38
NC_000002.11:g.71908241G>A , CM000664.1:g.71908241G>A	GRCh37
NC_000002.10:g.71761749G>A	NCBI36
NG_008694.1:g.232489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3587+1G>A	ENSP00000513536.1:n.3587+1G>A
ENST00000698058.1:c.2804+1G>A	ENSP00000513537.1:n.2804+1G>A
ENST00000698059.1:c.2912+1G>A	ENSP00000513538.1:n.2912+1G>A
ENST00000258104.8:c.6056+1G>A MANE Plus Clinical	ENSP00000258104.3:n.6056+1G>A
ENST00000410020.8:c.6173+1G>A MANE Select	ENSP00000386881.3:n.6173+1G>A
ENST00000258104.7:c.6056+1G>A	ENSP00000258104.3:n.6056+1G>A
ENST00000394120.6:c.6059+1G>A	ENSP00000377678.2:n.6059+1G>A
ENST00000409366.5:c.6122+1G>A	ENSP00000386512.1:n.6122+1G>A
ENST00000409582.7:c.6170+1G>A	ENSP00000386547.3:n.6170+1G>A
ENST00000409651.5:c.6152+1G>A	ENSP00000386683.1:n.6152+1G>A
ENST00000409744.5:c.6080+1G>A	ENSP00000386285.1:n.6080+1G>A
ENST00000409762.5:c.6107+1G>A	ENSP00000387137.1:n.6107+1G>A
ENST00000410020.7:c.6173+1G>A	ENSP00000386881.3:n.6173+1G>A
ENST00000410041.1:c.6110+1G>A	ENSP00000386617.1:n.6110+1G>A
ENST00000413539.6:c.6149+1G>A	ENSP00000407046.2:n.6149+1G>A
ENST00000429174.6:c.6119+1G>A	ENSP00000398305.2:n.6119+1G>A
ENST00000479049.6:n.2941+1G>A
NM_001130455.1:c.6059+1G>A	NP_001123927.1:n.6059+1G>A
NM_001130976.1:c.6014+1G>A	NP_001124448.1:n.6014+1G>A
NM_001130977.1:c.6077+1G>A	NP_001124449.1:n.6077+1G>A
NM_001130978.1:c.6119+1G>A	NP_001124450.1:n.6119+1G>A
NM_001130979.1:c.6149+1G>A	NP_001124451.1:n.6149+1G>A
NM_001130980.1:c.6107+1G>A	NP_001124452.1:n.6107+1G>A
NM_001130981.1:c.6170+1G>A	NP_001124453.1:n.6170+1G>A
NM_001130982.1:c.6152+1G>A	NP_001124454.1:n.6152+1G>A
NM_001130983.1:c.6122+1G>A	NP_001124455.1:n.6122+1G>A
NM_001130984.1:c.6080+1G>A	NP_001124456.1:n.6080+1G>A
NM_001130985.1:c.6110+1G>A	NP_001124457.1:n.6110+1G>A
NM_001130986.1:c.6017+1G>A	NP_001124458.1:n.6017+1G>A
NM_001130987.1:c.6173+1G>A	NP_001124459.1:n.6173+1G>A
NM_003494.3:c.6056+1G>A	NP_003485.1:n.6056+1G>A
XM_005264584.3:c.6215+1G>A	XP_005264641.1:n.6215+1G>A
XM_005264585.3:c.6212+1G>A	XP_005264642.1:n.6212+1G>A
XM_005264584.4:c.6215+1G>A	XP_005264641.1:n.6215+1G>A
XM_005264585.5:c.6212+1G>A	XP_005264642.1:n.6212+1G>A
NM_001130987.2:c.6173+1G>A MANE Select	NP_001124459.1:n.6173+1G>A
NM_001130455.2:c.6059+1G>A	NP_001123927.1:n.6059+1G>A
NM_001130976.2:c.6014+1G>A	NP_001124448.1:n.6014+1G>A
NM_001130977.2:c.6077+1G>A	NP_001124449.1:n.6077+1G>A
NM_001130978.2:c.6119+1G>A	NP_001124450.1:n.6119+1G>A
NM_001130979.2:c.6149+1G>A	NP_001124451.1:n.6149+1G>A
NM_001130980.2:c.6107+1G>A	NP_001124452.1:n.6107+1G>A
NM_001130981.2:c.6170+1G>A	NP_001124453.1:n.6170+1G>A
NM_001130982.2:c.6152+1G>A	NP_001124454.1:n.6152+1G>A
NM_001130983.2:c.6122+1G>A	NP_001124455.1:n.6122+1G>A
NM_001130984.2:c.6080+1G>A	NP_001124456.1:n.6080+1G>A
NM_001130985.2:c.6110+1G>A	NP_001124457.1:n.6110+1G>A
NM_001130986.2:c.6017+1G>A	NP_001124458.1:n.6017+1G>A
NM_003494.4:c.6056+1G>A MANE Plus Clinical	NP_003485.1:n.6056+1G>A