Canonical Allele Identifier: CA1707657

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71682610C>A , CM000664.2:g.71682610C>A	GRCh38
NC_000002.11:g.71909740C>A , CM000664.1:g.71909740C>A	GRCh37
NC_000002.10:g.71763248C>A	NCBI36
NG_008694.1:g.233988C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.6254C>A MANE Select	NP_001124459.1:p.Ala2085Asp
ENST00000410020.8:c.6254C>A MANE Select	ENSP00000386881.3:p.Ala2085Asp
NM_003494.4:c.6137C>A MANE Plus Clinical	NP_003485.1:p.Ala2046Asp
ENST00000258104.8:c.6137C>A MANE Plus Clinical	ENSP00000258104.3:p.Ala2046Asp
NM_001130455.1:c.6140C>A	NP_001123927.1:p.Ala2047Asp
NM_001130455.2:c.6140C>A	NP_001123927.1:p.Ala2047Asp
NM_001130976.1:c.6095C>A	NP_001124448.1:p.Ala2032Asp
NM_001130976.2:c.6095C>A	NP_001124448.1:p.Ala2032Asp
NM_001130977.1:c.6158C>A	NP_001124449.1:p.Ala2053Asp
NM_001130977.2:c.6158C>A	NP_001124449.1:p.Ala2053Asp
NM_001130978.1:c.6200C>A	NP_001124450.1:p.Ala2067Asp
NM_001130978.2:c.6200C>A	NP_001124450.1:p.Ala2067Asp
NM_001130979.1:c.6230C>A	NP_001124451.1:p.Ala2077Asp
NM_001130979.2:c.6230C>A	NP_001124451.1:p.Ala2077Asp
NM_001130980.1:c.6188C>A	NP_001124452.1:p.Ala2063Asp
NM_001130980.2:c.6188C>A	NP_001124452.1:p.Ala2063Asp
NM_001130981.1:c.6251C>A	NP_001124453.1:p.Ala2084Asp
NM_001130981.2:c.6251C>A	NP_001124453.1:p.Ala2084Asp
NM_001130982.1:c.6233C>A	NP_001124454.1:p.Ala2078Asp
NM_001130982.2:c.6233C>A	NP_001124454.1:p.Ala2078Asp
NM_001130983.1:c.6203C>A	NP_001124455.1:p.Ala2068Asp
NM_001130983.2:c.6203C>A	NP_001124455.1:p.Ala2068Asp
NM_001130984.1:c.6161C>A	NP_001124456.1:p.Ala2054Asp
NM_001130984.2:c.6161C>A	NP_001124456.1:p.Ala2054Asp
NM_001130985.1:c.6191C>A	NP_001124457.1:p.Ala2064Asp
NM_001130985.2:c.6191C>A	NP_001124457.1:p.Ala2064Asp
NM_001130986.1:c.6098C>A	NP_001124458.1:p.Ala2033Asp
NM_001130986.2:c.6098C>A	NP_001124458.1:p.Ala2033Asp
NM_001130987.1:c.6254C>A	NP_001124459.1:p.Ala2085Asp
NM_003494.3:c.6137C>A	NP_003485.1:p.Ala2046Asp
ENST00000258104.7:c.6137C>A	ENSP00000258104.3:p.Ala2046Asp
ENST00000394120.6:c.6140C>A	ENSP00000377678.2:p.Ala2047Asp
ENST00000409366.5:c.6203C>A	ENSP00000386512.1:p.Ala2068Asp
ENST00000409582.7:c.6251C>A	ENSP00000386547.3:p.Ala2084Asp
ENST00000409651.5:c.6233C>A	ENSP00000386683.1:p.Ala2078Asp
ENST00000409744.5:c.6161C>A	ENSP00000386285.1:p.Ala2054Asp
ENST00000409762.5:c.6188C>A	ENSP00000387137.1:p.Ala2063Asp
ENST00000410020.7:c.6254C>A	ENSP00000386881.3:p.Ala2085Asp
ENST00000410041.1:c.6191C>A	ENSP00000386617.1:p.Ala2064Asp
ENST00000413539.6:c.6230C>A	ENSP00000407046.2:p.Ala2077Asp
ENST00000429174.6:c.6200C>A	ENSP00000398305.2:p.Ala2067Asp
ENST00000479049.6:n.3022C>A
ENST00000698057.1:c.3668C>A	ENSP00000513536.1:p.Ala1223Asp
ENST00000698058.1:c.2885C>A	ENSP00000513537.1:p.Ala962Asp
ENST00000698059.1:c.2993C>A	ENSP00000513538.1:p.Ala998Asp
XM_005264584.3:c.6296C>A	XP_005264641.1:p.Ala2099Asp
XM_005264584.4:c.6296C>A	XP_005264641.1:p.Ala2099Asp
XM_005264585.3:c.6293C>A	XP_005264642.1:p.Ala2098Asp
XM_005264585.5:c.6293C>A	XP_005264642.1:p.Ala2098Asp