Canonical Allele Identifier: CA1260120216

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71602796C= , CM000664.2:g.71602796C=	GRCh38
NC_000002.11:g.71829926C= , CM000664.1:g.71829926C=	GRCh37
NC_000002.10:g.71683434C=	NCBI36
NG_008694.1:g.154174C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1320C=	ENSP00000513536.1:p.Ile440=
ENST00000698058.1:c.537C=	ENSP00000513537.1:p.Ile179=
ENST00000698059.1:c.537C=	ENSP00000513538.1:p.Ile179=
ENST00000258104.8:c.3894C= MANE Plus Clinical	ENSP00000258104.3:p.Ile1298=
ENST00000410020.8:c.3948C= MANE Select	ENSP00000386881.3:p.Ile1316=
ENST00000258104.7:c.3894C=	ENSP00000258104.3:p.Ile1298=
ENST00000394120.6:c.3897C=	ENSP00000377678.2:p.Ile1299=
ENST00000409366.5:c.3897C=	ENSP00000386512.1:p.Ile1299=
ENST00000409582.7:c.3945C=	ENSP00000386547.3:p.Ile1315=
ENST00000409651.5:c.3990C=	ENSP00000386683.1:p.Ile1330=
ENST00000409744.5:c.3855C=	ENSP00000386285.1:p.Ile1285=
ENST00000409762.5:c.3945C=	ENSP00000387137.1:p.Ile1315=
ENST00000410020.7:c.3948C=	ENSP00000386881.3:p.Ile1316=
ENST00000410041.1:c.3948C=	ENSP00000386617.1:p.Ile1316=
ENST00000413539.6:c.3987C=	ENSP00000407046.2:p.Ile1329=
ENST00000429174.6:c.3894C=	ENSP00000398305.2:p.Ile1298=
ENST00000472873.5:n.278C=
ENST00000479049.6:n.779C=
ENST00000487180.5:n.113C=
ENST00000494501.5:n.254C=
NM_001130455.1:c.3897C=	NP_001123927.1:p.Ile1299=
NM_001130976.1:c.3852C=	NP_001124448.1:p.Ile1284=
NM_001130977.1:c.3852C=	NP_001124449.1:p.Ile1284=
NM_001130978.1:c.3894C=	NP_001124450.1:p.Ile1298=
NM_001130979.1:c.3987C=	NP_001124451.1:p.Ile1329=
NM_001130980.1:c.3945C=	NP_001124452.1:p.Ile1315=
NM_001130981.1:c.3945C=	NP_001124453.1:p.Ile1315=
NM_001130982.1:c.3990C=	NP_001124454.1:p.Ile1330=
NM_001130983.1:c.3897C=	NP_001124455.1:p.Ile1299=
NM_001130984.1:c.3855C=	NP_001124456.1:p.Ile1285=
NM_001130985.1:c.3948C=	NP_001124457.1:p.Ile1316=
NM_001130986.1:c.3855C=	NP_001124458.1:p.Ile1285=
NM_001130987.1:c.3948C=	NP_001124459.1:p.Ile1316=
NM_003494.3:c.3894C=	NP_003485.1:p.Ile1298=
XM_005264584.3:c.3990C=	XP_005264641.1:p.Ile1330=
XM_005264585.3:c.3987C=	XP_005264642.1:p.Ile1329=
XM_005264584.4:c.3990C=	XP_005264641.1:p.Ile1330=
XM_005264585.5:c.3987C=	XP_005264642.1:p.Ile1329=
XR_001738969.1:n.4148C=
NM_001130987.2:c.3948C= MANE Select	NP_001124459.1:p.Ile1316=
NM_001130455.2:c.3897C=	NP_001123927.1:p.Ile1299=
NM_001130976.2:c.3852C=	NP_001124448.1:p.Ile1284=
NM_001130977.2:c.3852C=	NP_001124449.1:p.Ile1284=
NM_001130978.2:c.3894C=	NP_001124450.1:p.Ile1298=
NM_001130979.2:c.3987C=	NP_001124451.1:p.Ile1329=
NM_001130980.2:c.3945C=	NP_001124452.1:p.Ile1315=
NM_001130981.2:c.3945C=	NP_001124453.1:p.Ile1315=
NM_001130982.2:c.3990C=	NP_001124454.1:p.Ile1330=
NM_001130983.2:c.3897C=	NP_001124455.1:p.Ile1299=
NM_001130984.2:c.3855C=	NP_001124456.1:p.Ile1285=
NM_001130985.2:c.3948C=	NP_001124457.1:p.Ile1316=
NM_001130986.2:c.3855C=	NP_001124458.1:p.Ile1285=
NM_003494.4:c.3894C= MANE Plus Clinical	NP_003485.1:p.Ile1298=