Canonical Allele Identifier: CA347217023

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570663G>C , CM000664.2:g.71570663G>C	GRCh38
NC_000002.11:g.71797793G>C , CM000664.1:g.71797793G>C	GRCh37
NC_000002.10:g.71651301G>C	NCBI36
NG_008694.1:g.122041G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.3150G>C MANE Select	NP_001124459.1:p.Lys1050Asn
ENST00000410020.8:c.3150G>C MANE Select	ENSP00000386881.3:p.Lys1050Asn
NM_003494.4:c.3096G>C MANE Plus Clinical	NP_003485.1:p.Lys1032Asn
ENST00000258104.8:c.3096G>C MANE Plus Clinical	ENSP00000258104.3:p.Lys1032Asn
NM_001130455.1:c.3099G>C	NP_001123927.1:p.Lys1033Asn
NM_001130455.2:c.3099G>C	NP_001123927.1:p.Lys1033Asn
NM_001130976.1:c.3054G>C	NP_001124448.1:p.Lys1018Asn
NM_001130976.2:c.3054G>C	NP_001124448.1:p.Lys1018Asn
NM_001130977.1:c.3054G>C	NP_001124449.1:p.Lys1018Asn
NM_001130977.2:c.3054G>C	NP_001124449.1:p.Lys1018Asn
NM_001130978.1:c.3096G>C	NP_001124450.1:p.Lys1032Asn
NM_001130978.2:c.3096G>C	NP_001124450.1:p.Lys1032Asn
NM_001130979.1:c.3189G>C	NP_001124451.1:p.Lys1063Asn
NM_001130979.2:c.3189G>C	NP_001124451.1:p.Lys1063Asn
NM_001130980.1:c.3147G>C	NP_001124452.1:p.Lys1049Asn
NM_001130980.2:c.3147G>C	NP_001124452.1:p.Lys1049Asn
NM_001130981.1:c.3147G>C	NP_001124453.1:p.Lys1049Asn
NM_001130981.2:c.3147G>C	NP_001124453.1:p.Lys1049Asn
NM_001130982.1:c.3192G>C	NP_001124454.1:p.Lys1064Asn
NM_001130982.2:c.3192G>C	NP_001124454.1:p.Lys1064Asn
NM_001130983.1:c.3099G>C	NP_001124455.1:p.Lys1033Asn
NM_001130983.2:c.3099G>C	NP_001124455.1:p.Lys1033Asn
NM_001130984.1:c.3057G>C	NP_001124456.1:p.Lys1019Asn
NM_001130984.2:c.3057G>C	NP_001124456.1:p.Lys1019Asn
NM_001130985.1:c.3150G>C	NP_001124457.1:p.Lys1050Asn
NM_001130985.2:c.3150G>C	NP_001124457.1:p.Lys1050Asn
NM_001130986.1:c.3057G>C	NP_001124458.1:p.Lys1019Asn
NM_001130986.2:c.3057G>C	NP_001124458.1:p.Lys1019Asn
NM_001130987.1:c.3150G>C	NP_001124459.1:p.Lys1050Asn
NM_003494.3:c.3096G>C	NP_003485.1:p.Lys1032Asn
ENST00000258104.7:c.3096G>C	ENSP00000258104.3:p.Lys1032Asn
ENST00000394120.6:c.3099G>C	ENSP00000377678.2:p.Lys1033Asn
ENST00000409366.5:c.3099G>C	ENSP00000386512.1:p.Lys1033Asn
ENST00000409582.7:c.3147G>C	ENSP00000386547.3:p.Lys1049Asn
ENST00000409651.5:c.3192G>C	ENSP00000386683.1:p.Lys1064Asn
ENST00000409744.5:c.3057G>C	ENSP00000386285.1:p.Lys1019Asn
ENST00000409762.5:c.3147G>C	ENSP00000387137.1:p.Lys1049Asn
ENST00000410020.7:c.3150G>C	ENSP00000386881.3:p.Lys1050Asn
ENST00000410041.1:c.3150G>C	ENSP00000386617.1:p.Lys1050Asn
ENST00000413539.6:c.3189G>C	ENSP00000407046.2:p.Lys1063Asn
ENST00000429174.6:c.3096G>C	ENSP00000398305.2:p.Lys1032Asn
ENST00000461565.1:n.262G>C
ENST00000698057.1:c.522G>C	ENSP00000513536.1:p.Lys174Asn
XM_005264584.3:c.3192G>C	XP_005264641.1:p.Lys1064Asn
XM_005264584.4:c.3192G>C	XP_005264641.1:p.Lys1064Asn
XM_005264585.3:c.3189G>C	XP_005264642.1:p.Lys1063Asn
XM_005264585.5:c.3189G>C	XP_005264642.1:p.Lys1063Asn
XR_001738969.1:n.3350G>C