Canonical Allele Identifier: CA347220083

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71660628C>A , CM000664.2:g.71660628C>A	GRCh38
NC_000002.11:g.71887758C>A , CM000664.1:g.71887758C>A	GRCh37
NC_000002.10:g.71741266C>A	NCBI36
NG_008694.1:g.212006C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.4980C>A MANE Select	NP_001124459.1:p.Cys1660Ter
ENST00000410020.8:c.4980C>A MANE Select	ENSP00000386881.3:p.Cys1660Ter
NM_003494.4:c.4863C>A MANE Plus Clinical	NP_003485.1:p.Cys1621Ter
ENST00000258104.8:c.4863C>A MANE Plus Clinical	ENSP00000258104.3:p.Cys1621Ter
NM_001130455.1:c.4866C>A	NP_001123927.1:p.Cys1622Ter
NM_001130455.2:c.4866C>A	NP_001123927.1:p.Cys1622Ter
NM_001130976.1:c.4821C>A	NP_001124448.1:p.Cys1607Ter
NM_001130976.2:c.4821C>A	NP_001124448.1:p.Cys1607Ter
NM_001130977.1:c.4884C>A	NP_001124449.1:p.Cys1628Ter
NM_001130977.2:c.4884C>A	NP_001124449.1:p.Cys1628Ter
NM_001130978.1:c.4926C>A	NP_001124450.1:p.Cys1642Ter
NM_001130978.2:c.4926C>A	NP_001124450.1:p.Cys1642Ter
NM_001130979.1:c.4956C>A	NP_001124451.1:p.Cys1652Ter
NM_001130979.2:c.4956C>A	NP_001124451.1:p.Cys1652Ter
NM_001130980.1:c.4914C>A	NP_001124452.1:p.Cys1638Ter
NM_001130980.2:c.4914C>A	NP_001124452.1:p.Cys1638Ter
NM_001130981.1:c.4977C>A	NP_001124453.1:p.Cys1659Ter
NM_001130981.2:c.4977C>A	NP_001124453.1:p.Cys1659Ter
NM_001130982.1:c.4959C>A	NP_001124454.1:p.Cys1653Ter
NM_001130982.2:c.4959C>A	NP_001124454.1:p.Cys1653Ter
NM_001130983.1:c.4929C>A	NP_001124455.1:p.Cys1643Ter
NM_001130983.2:c.4929C>A	NP_001124455.1:p.Cys1643Ter
NM_001130984.1:c.4887C>A	NP_001124456.1:p.Cys1629Ter
NM_001130984.2:c.4887C>A	NP_001124456.1:p.Cys1629Ter
NM_001130985.1:c.4917C>A	NP_001124457.1:p.Cys1639Ter
NM_001130985.2:c.4917C>A	NP_001124457.1:p.Cys1639Ter
NM_001130986.1:c.4824C>A	NP_001124458.1:p.Cys1608Ter
NM_001130986.2:c.4824C>A	NP_001124458.1:p.Cys1608Ter
NM_001130987.1:c.4980C>A	NP_001124459.1:p.Cys1660Ter
NM_003494.3:c.4863C>A	NP_003485.1:p.Cys1621Ter
ENST00000258104.7:c.4863C>A	ENSP00000258104.3:p.Cys1621Ter
ENST00000394120.6:c.4866C>A	ENSP00000377678.2:p.Cys1622Ter
ENST00000409366.5:c.4929C>A	ENSP00000386512.1:p.Cys1643Ter
ENST00000409582.7:c.4977C>A	ENSP00000386547.3:p.Cys1659Ter
ENST00000409651.5:c.4959C>A	ENSP00000386683.1:p.Cys1653Ter
ENST00000409744.5:c.4887C>A	ENSP00000386285.1:p.Cys1629Ter
ENST00000409762.5:c.4914C>A	ENSP00000387137.1:p.Cys1638Ter
ENST00000410020.7:c.4980C>A	ENSP00000386881.3:p.Cys1660Ter
ENST00000410041.1:c.4917C>A	ENSP00000386617.1:p.Cys1639Ter
ENST00000413539.6:c.4956C>A	ENSP00000407046.2:p.Cys1652Ter
ENST00000429174.6:c.4926C>A	ENSP00000398305.2:p.Cys1642Ter
ENST00000479049.6:n.1748C>A
ENST00000698057.1:c.2394C>A	ENSP00000513536.1:p.Cys798Ter
ENST00000698058.1:c.1611C>A	ENSP00000513537.1:p.Cys537Ter
ENST00000698059.1:c.1719C>A	ENSP00000513538.1:p.Cys573Ter
XM_005264584.3:c.5022C>A	XP_005264641.1:p.Cys1674Ter
XM_005264584.4:c.5022C>A	XP_005264641.1:p.Cys1674Ter
XM_005264585.3:c.5019C>A	XP_005264642.1:p.Cys1673Ter
XM_005264585.5:c.5019C>A	XP_005264642.1:p.Cys1673Ter
XR_001738969.1:n.5180C>A