Canonical Allele Identifier: CA347223805

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669678T>C , CM000664.2:g.71669678T>C	GRCh38
NC_000002.11:g.71896808T>C , CM000664.1:g.71896808T>C	GRCh37
NC_000002.10:g.71750316T>C	NCBI36
NG_008694.1:g.221056T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5716T>C MANE Select	NP_001124459.1:p.Phe1906Leu
ENST00000410020.8:c.5716T>C MANE Select	ENSP00000386881.3:p.Phe1906Leu
NM_003494.4:c.5599T>C MANE Plus Clinical	NP_003485.1:p.Phe1867Leu
ENST00000258104.8:c.5599T>C MANE Plus Clinical	ENSP00000258104.3:p.Phe1867Leu
NM_001130455.1:c.5602T>C	NP_001123927.1:p.Phe1868Leu
NM_001130455.2:c.5602T>C	NP_001123927.1:p.Phe1868Leu
NM_001130976.1:c.5557T>C	NP_001124448.1:p.Phe1853Leu
NM_001130976.2:c.5557T>C	NP_001124448.1:p.Phe1853Leu
NM_001130977.1:c.5620T>C	NP_001124449.1:p.Phe1874Leu
NM_001130977.2:c.5620T>C	NP_001124449.1:p.Phe1874Leu
NM_001130978.1:c.5662T>C	NP_001124450.1:p.Phe1888Leu
NM_001130978.2:c.5662T>C	NP_001124450.1:p.Phe1888Leu
NM_001130979.1:c.5692T>C	NP_001124451.1:p.Phe1898Leu
NM_001130979.2:c.5692T>C	NP_001124451.1:p.Phe1898Leu
NM_001130980.1:c.5650T>C	NP_001124452.1:p.Phe1884Leu
NM_001130980.2:c.5650T>C	NP_001124452.1:p.Phe1884Leu
NM_001130981.1:c.5713T>C	NP_001124453.1:p.Phe1905Leu
NM_001130981.2:c.5713T>C	NP_001124453.1:p.Phe1905Leu
NM_001130982.1:c.5695T>C	NP_001124454.1:p.Phe1899Leu
NM_001130982.2:c.5695T>C	NP_001124454.1:p.Phe1899Leu
NM_001130983.1:c.5665T>C	NP_001124455.1:p.Phe1889Leu
NM_001130983.2:c.5665T>C	NP_001124455.1:p.Phe1889Leu
NM_001130984.1:c.5623T>C	NP_001124456.1:p.Phe1875Leu
NM_001130984.2:c.5623T>C	NP_001124456.1:p.Phe1875Leu
NM_001130985.1:c.5653T>C	NP_001124457.1:p.Phe1885Leu
NM_001130985.2:c.5653T>C	NP_001124457.1:p.Phe1885Leu
NM_001130986.1:c.5560T>C	NP_001124458.1:p.Phe1854Leu
NM_001130986.2:c.5560T>C	NP_001124458.1:p.Phe1854Leu
NM_001130987.1:c.5716T>C	NP_001124459.1:p.Phe1906Leu
NM_003494.3:c.5599T>C	NP_003485.1:p.Phe1867Leu
ENST00000258104.7:c.5599T>C	ENSP00000258104.3:p.Phe1867Leu
ENST00000394120.6:c.5602T>C	ENSP00000377678.2:p.Phe1868Leu
ENST00000409366.5:c.5665T>C	ENSP00000386512.1:p.Phe1889Leu
ENST00000409582.7:c.5713T>C	ENSP00000386547.3:p.Phe1905Leu
ENST00000409651.5:c.5695T>C	ENSP00000386683.1:p.Phe1899Leu
ENST00000409744.5:c.5623T>C	ENSP00000386285.1:p.Phe1875Leu
ENST00000409762.5:c.5650T>C	ENSP00000387137.1:p.Phe1884Leu
ENST00000410020.7:c.5716T>C	ENSP00000386881.3:p.Phe1906Leu
ENST00000410041.1:c.5653T>C	ENSP00000386617.1:p.Phe1885Leu
ENST00000413539.6:c.5692T>C	ENSP00000407046.2:p.Phe1898Leu
ENST00000429174.6:c.5662T>C	ENSP00000398305.2:p.Phe1888Leu
ENST00000479049.6:n.2484T>C
ENST00000698057.1:c.3130T>C	ENSP00000513536.1:p.Phe1044Leu
ENST00000698058.1:c.2347T>C	ENSP00000513537.1:p.Phe783Leu
ENST00000698059.1:c.2455T>C	ENSP00000513538.1:p.Phe819Leu
XM_005264584.3:c.5758T>C	XP_005264641.1:p.Phe1920Leu
XM_005264584.4:c.5758T>C	XP_005264641.1:p.Phe1920Leu
XM_005264585.3:c.5755T>C	XP_005264642.1:p.Phe1919Leu
XM_005264585.5:c.5755T>C	XP_005264642.1:p.Phe1919Leu