Canonical Allele Identifier: CA347226835

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71681068G>A , CM000664.2:g.71681068G>A	GRCh38
NC_000002.11:g.71908198G>A , CM000664.1:g.71908198G>A	GRCh37
NC_000002.10:g.71761706G>A	NCBI36
NG_008694.1:g.232446G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.6131G>A MANE Select	NP_001124459.1:p.Gly2044Asp
ENST00000410020.8:c.6131G>A MANE Select	ENSP00000386881.3:p.Gly2044Asp
NM_003494.4:c.6014G>A MANE Plus Clinical	NP_003485.1:p.Gly2005Asp
ENST00000258104.8:c.6014G>A MANE Plus Clinical	ENSP00000258104.3:p.Gly2005Asp
NM_001130455.1:c.6017G>A	NP_001123927.1:p.Gly2006Asp
NM_001130455.2:c.6017G>A	NP_001123927.1:p.Gly2006Asp
NM_001130976.1:c.5972G>A	NP_001124448.1:p.Gly1991Asp
NM_001130976.2:c.5972G>A	NP_001124448.1:p.Gly1991Asp
NM_001130977.1:c.6035G>A	NP_001124449.1:p.Gly2012Asp
NM_001130977.2:c.6035G>A	NP_001124449.1:p.Gly2012Asp
NM_001130978.1:c.6077G>A	NP_001124450.1:p.Gly2026Asp
NM_001130978.2:c.6077G>A	NP_001124450.1:p.Gly2026Asp
NM_001130979.1:c.6107G>A	NP_001124451.1:p.Gly2036Asp
NM_001130979.2:c.6107G>A	NP_001124451.1:p.Gly2036Asp
NM_001130980.1:c.6065G>A	NP_001124452.1:p.Gly2022Asp
NM_001130980.2:c.6065G>A	NP_001124452.1:p.Gly2022Asp
NM_001130981.1:c.6128G>A	NP_001124453.1:p.Gly2043Asp
NM_001130981.2:c.6128G>A	NP_001124453.1:p.Gly2043Asp
NM_001130982.1:c.6110G>A	NP_001124454.1:p.Gly2037Asp
NM_001130982.2:c.6110G>A	NP_001124454.1:p.Gly2037Asp
NM_001130983.1:c.6080G>A	NP_001124455.1:p.Gly2027Asp
NM_001130983.2:c.6080G>A	NP_001124455.1:p.Gly2027Asp
NM_001130984.1:c.6038G>A	NP_001124456.1:p.Gly2013Asp
NM_001130984.2:c.6038G>A	NP_001124456.1:p.Gly2013Asp
NM_001130985.1:c.6068G>A	NP_001124457.1:p.Gly2023Asp
NM_001130985.2:c.6068G>A	NP_001124457.1:p.Gly2023Asp
NM_001130986.1:c.5975G>A	NP_001124458.1:p.Gly1992Asp
NM_001130986.2:c.5975G>A	NP_001124458.1:p.Gly1992Asp
NM_001130987.1:c.6131G>A	NP_001124459.1:p.Gly2044Asp
NM_003494.3:c.6014G>A	NP_003485.1:p.Gly2005Asp
ENST00000258104.7:c.6014G>A	ENSP00000258104.3:p.Gly2005Asp
ENST00000394120.6:c.6017G>A	ENSP00000377678.2:p.Gly2006Asp
ENST00000409366.5:c.6080G>A	ENSP00000386512.1:p.Gly2027Asp
ENST00000409582.7:c.6128G>A	ENSP00000386547.3:p.Gly2043Asp
ENST00000409651.5:c.6110G>A	ENSP00000386683.1:p.Gly2037Asp
ENST00000409744.5:c.6038G>A	ENSP00000386285.1:p.Gly2013Asp
ENST00000409762.5:c.6065G>A	ENSP00000387137.1:p.Gly2022Asp
ENST00000410020.7:c.6131G>A	ENSP00000386881.3:p.Gly2044Asp
ENST00000410041.1:c.6068G>A	ENSP00000386617.1:p.Gly2023Asp
ENST00000413539.6:c.6107G>A	ENSP00000407046.2:p.Gly2036Asp
ENST00000429174.6:c.6077G>A	ENSP00000398305.2:p.Gly2026Asp
ENST00000479049.6:n.2899G>A
ENST00000698057.1:c.3545G>A	ENSP00000513536.1:p.Gly1182Asp
ENST00000698058.1:c.2762G>A	ENSP00000513537.1:p.Gly921Asp
ENST00000698059.1:c.2870G>A	ENSP00000513538.1:p.Gly957Asp
XM_005264584.3:c.6173G>A	XP_005264641.1:p.Gly2058Asp
XM_005264584.4:c.6173G>A	XP_005264641.1:p.Gly2058Asp
XM_005264585.3:c.6170G>A	XP_005264642.1:p.Gly2057Asp
XM_005264585.5:c.6170G>A	XP_005264642.1:p.Gly2057Asp