Canonical Allele Identifier: CA1260094758

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71551153C= , CM000664.2:g.71551153C=	GRCh38
NC_000002.11:g.71778283C= , CM000664.1:g.71778283C=	GRCh37
NC_000002.10:g.71631791C=	NCBI36
NG_008694.1:g.102531C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.1635C= MANE Plus Clinical	ENSP00000258104.3:p.Gly545=
ENST00000410020.8:c.1689C= MANE Select	ENSP00000386881.3:p.Gly563=
ENST00000258104.7:c.1635C=	ENSP00000258104.3:p.Gly545=
ENST00000394120.6:c.1638C=	ENSP00000377678.2:p.Gly546=
ENST00000409366.5:c.1638C=	ENSP00000386512.1:p.Gly546=
ENST00000409582.7:c.1686C=	ENSP00000386547.3:p.Gly562=
ENST00000409651.5:c.1731C=	ENSP00000386683.1:p.Gly577=
ENST00000409744.5:c.1596C=	ENSP00000386285.1:p.Gly532=
ENST00000409762.5:c.1686C=	ENSP00000387137.1:p.Gly562=
ENST00000410020.7:c.1689C=	ENSP00000386881.3:p.Gly563=
ENST00000410041.1:c.1689C=	ENSP00000386617.1:p.Gly563=
ENST00000413539.6:c.1728C=	ENSP00000407046.2:p.Gly576=
ENST00000429174.6:c.1635C=	ENSP00000398305.2:p.Gly545=
NM_001130455.1:c.1638C=	NP_001123927.1:p.Gly546=
NM_001130976.1:c.1593C=	NP_001124448.1:p.Gly531=
NM_001130977.1:c.1593C=	NP_001124449.1:p.Gly531=
NM_001130978.1:c.1635C=	NP_001124450.1:p.Gly545=
NM_001130979.1:c.1728C=	NP_001124451.1:p.Gly576=
NM_001130980.1:c.1686C=	NP_001124452.1:p.Gly562=
NM_001130981.1:c.1686C=	NP_001124453.1:p.Gly562=
NM_001130982.1:c.1731C=	NP_001124454.1:p.Gly577=
NM_001130983.1:c.1638C=	NP_001124455.1:p.Gly546=
NM_001130984.1:c.1596C=	NP_001124456.1:p.Gly532=
NM_001130985.1:c.1689C=	NP_001124457.1:p.Gly563=
NM_001130986.1:c.1596C=	NP_001124458.1:p.Gly532=
NM_001130987.1:c.1689C=	NP_001124459.1:p.Gly563=
NM_003494.3:c.1635C=	NP_003485.1:p.Gly545=
XM_005264584.3:c.1731C=	XP_005264641.1:p.Gly577=
XM_005264585.3:c.1728C=	XP_005264642.1:p.Gly576=
XM_005264584.4:c.1731C=	XP_005264641.1:p.Gly577=
XM_005264585.5:c.1728C=	XP_005264642.1:p.Gly576=
XR_001738969.1:n.1889C=
NM_001130987.2:c.1689C= MANE Select	NP_001124459.1:p.Gly563=
NM_001130455.2:c.1638C=	NP_001123927.1:p.Gly546=
NM_001130976.2:c.1593C=	NP_001124448.1:p.Gly531=
NM_001130977.2:c.1593C=	NP_001124449.1:p.Gly531=
NM_001130978.2:c.1635C=	NP_001124450.1:p.Gly545=
NM_001130979.2:c.1728C=	NP_001124451.1:p.Gly576=
NM_001130980.2:c.1686C=	NP_001124452.1:p.Gly562=
NM_001130981.2:c.1686C=	NP_001124453.1:p.Gly562=
NM_001130982.2:c.1731C=	NP_001124454.1:p.Gly577=
NM_001130983.2:c.1638C=	NP_001124455.1:p.Gly546=
NM_001130984.2:c.1596C=	NP_001124456.1:p.Gly532=
NM_001130985.2:c.1689C=	NP_001124457.1:p.Gly563=
NM_001130986.2:c.1596C=	NP_001124458.1:p.Gly532=
NM_003494.4:c.1635C= MANE Plus Clinical	NP_003485.1:p.Gly545=