Canonical Allele Identifier: CA1260095693

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71553138C= , CM000664.2:g.71553138C=	GRCh38
NC_000002.11:g.71780268C= , CM000664.1:g.71780268C=	GRCh37
NC_000002.10:g.71633776C=	NCBI36
NG_008694.1:g.104516C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.1880C= MANE Plus Clinical	ENSP00000258104.3:p.Thr627=
ENST00000410020.8:c.1934C= MANE Select	ENSP00000386881.3:p.Thr645=
ENST00000258104.7:c.1880C=	ENSP00000258104.3:p.Thr627=
ENST00000394120.6:c.1883C=	ENSP00000377678.2:p.Thr628=
ENST00000409366.5:c.1883C=	ENSP00000386512.1:p.Thr628=
ENST00000409582.7:c.1931C=	ENSP00000386547.3:p.Thr644=
ENST00000409651.5:c.1976C=	ENSP00000386683.1:p.Thr659=
ENST00000409744.5:c.1841C=	ENSP00000386285.1:p.Thr614=
ENST00000409762.5:c.1931C=	ENSP00000387137.1:p.Thr644=
ENST00000410020.7:c.1934C=	ENSP00000386881.3:p.Thr645=
ENST00000410041.1:c.1934C=	ENSP00000386617.1:p.Thr645=
ENST00000413539.6:c.1973C=	ENSP00000407046.2:p.Thr658=
ENST00000429174.6:c.1880C=	ENSP00000398305.2:p.Thr627=
NM_001130455.1:c.1883C=	NP_001123927.1:p.Thr628=
NM_001130976.1:c.1838C=	NP_001124448.1:p.Thr613=
NM_001130977.1:c.1838C=	NP_001124449.1:p.Thr613=
NM_001130978.1:c.1880C=	NP_001124450.1:p.Thr627=
NM_001130979.1:c.1973C=	NP_001124451.1:p.Thr658=
NM_001130980.1:c.1931C=	NP_001124452.1:p.Thr644=
NM_001130981.1:c.1931C=	NP_001124453.1:p.Thr644=
NM_001130982.1:c.1976C=	NP_001124454.1:p.Thr659=
NM_001130983.1:c.1883C=	NP_001124455.1:p.Thr628=
NM_001130984.1:c.1841C=	NP_001124456.1:p.Thr614=
NM_001130985.1:c.1934C=	NP_001124457.1:p.Thr645=
NM_001130986.1:c.1841C=	NP_001124458.1:p.Thr614=
NM_001130987.1:c.1934C=	NP_001124459.1:p.Thr645=
NM_003494.3:c.1880C=	NP_003485.1:p.Thr627=
XM_005264584.3:c.1976C=	XP_005264641.1:p.Thr659=
XM_005264585.3:c.1973C=	XP_005264642.1:p.Thr658=
XM_005264584.4:c.1976C=	XP_005264641.1:p.Thr659=
XM_005264585.5:c.1973C=	XP_005264642.1:p.Thr658=
XR_001738969.1:n.2134C=
NM_001130987.2:c.1934C= MANE Select	NP_001124459.1:p.Thr645=
NM_001130455.2:c.1883C=	NP_001123927.1:p.Thr628=
NM_001130976.2:c.1838C=	NP_001124448.1:p.Thr613=
NM_001130977.2:c.1838C=	NP_001124449.1:p.Thr613=
NM_001130978.2:c.1880C=	NP_001124450.1:p.Thr627=
NM_001130979.2:c.1973C=	NP_001124451.1:p.Thr658=
NM_001130980.2:c.1931C=	NP_001124452.1:p.Thr644=
NM_001130981.2:c.1931C=	NP_001124453.1:p.Thr644=
NM_001130982.2:c.1976C=	NP_001124454.1:p.Thr659=
NM_001130983.2:c.1883C=	NP_001124455.1:p.Thr628=
NM_001130984.2:c.1841C=	NP_001124456.1:p.Thr614=
NM_001130985.2:c.1934C=	NP_001124457.1:p.Thr645=
NM_001130986.2:c.1841C=	NP_001124458.1:p.Thr614=
NM_003494.4:c.1880C= MANE Plus Clinical	NP_003485.1:p.Thr627=