Canonical Allele Identifier: CA347226803

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71681053G>C , CM000664.2:g.71681053G>C	GRCh38
NC_000002.11:g.71908183G>C , CM000664.1:g.71908183G>C	GRCh37
NC_000002.10:g.71761691G>C	NCBI36
NG_008694.1:g.232431G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3530G>C	ENSP00000513536.1:p.Arg1177Pro
ENST00000698058.1:c.2747G>C	ENSP00000513537.1:p.Arg916Pro
ENST00000698059.1:c.2855G>C	ENSP00000513538.1:p.Arg952Pro
ENST00000258104.8:c.5999G>C MANE Plus Clinical	ENSP00000258104.3:p.Arg2000Pro
ENST00000410020.8:c.6116G>C MANE Select	ENSP00000386881.3:p.Arg2039Pro
ENST00000258104.7:c.5999G>C	ENSP00000258104.3:p.Arg2000Pro
ENST00000394120.6:c.6002G>C	ENSP00000377678.2:p.Arg2001Pro
ENST00000409366.5:c.6065G>C	ENSP00000386512.1:p.Arg2022Pro
ENST00000409582.7:c.6113G>C	ENSP00000386547.3:p.Arg2038Pro
ENST00000409651.5:c.6095G>C	ENSP00000386683.1:p.Arg2032Pro
ENST00000409744.5:c.6023G>C	ENSP00000386285.1:p.Arg2008Pro
ENST00000409762.5:c.6050G>C	ENSP00000387137.1:p.Arg2017Pro
ENST00000410020.7:c.6116G>C	ENSP00000386881.3:p.Arg2039Pro
ENST00000410041.1:c.6053G>C	ENSP00000386617.1:p.Arg2018Pro
ENST00000413539.6:c.6092G>C	ENSP00000407046.2:p.Arg2031Pro
ENST00000429174.6:c.6062G>C	ENSP00000398305.2:p.Arg2021Pro
ENST00000479049.6:n.2884G>C
NM_001130455.1:c.6002G>C	NP_001123927.1:p.Arg2001Pro
NM_001130976.1:c.5957G>C	NP_001124448.1:p.Arg1986Pro
NM_001130977.1:c.6020G>C	NP_001124449.1:p.Arg2007Pro
NM_001130978.1:c.6062G>C	NP_001124450.1:p.Arg2021Pro
NM_001130979.1:c.6092G>C	NP_001124451.1:p.Arg2031Pro
NM_001130980.1:c.6050G>C	NP_001124452.1:p.Arg2017Pro
NM_001130981.1:c.6113G>C	NP_001124453.1:p.Arg2038Pro
NM_001130982.1:c.6095G>C	NP_001124454.1:p.Arg2032Pro
NM_001130983.1:c.6065G>C	NP_001124455.1:p.Arg2022Pro
NM_001130984.1:c.6023G>C	NP_001124456.1:p.Arg2008Pro
NM_001130985.1:c.6053G>C	NP_001124457.1:p.Arg2018Pro
NM_001130986.1:c.5960G>C	NP_001124458.1:p.Arg1987Pro
NM_001130987.1:c.6116G>C	NP_001124459.1:p.Arg2039Pro
NM_003494.3:c.5999G>C	NP_003485.1:p.Arg2000Pro
XM_005264584.3:c.6158G>C	XP_005264641.1:p.Arg2053Pro
XM_005264585.3:c.6155G>C	XP_005264642.1:p.Arg2052Pro
XM_005264584.4:c.6158G>C	XP_005264641.1:p.Arg2053Pro
XM_005264585.5:c.6155G>C	XP_005264642.1:p.Arg2052Pro
NM_001130987.2:c.6116G>C MANE Select	NP_001124459.1:p.Arg2039Pro
NM_001130455.2:c.6002G>C	NP_001123927.1:p.Arg2001Pro
NM_001130976.2:c.5957G>C	NP_001124448.1:p.Arg1986Pro
NM_001130977.2:c.6020G>C	NP_001124449.1:p.Arg2007Pro
NM_001130978.2:c.6062G>C	NP_001124450.1:p.Arg2021Pro
NM_001130979.2:c.6092G>C	NP_001124451.1:p.Arg2031Pro
NM_001130980.2:c.6050G>C	NP_001124452.1:p.Arg2017Pro
NM_001130981.2:c.6113G>C	NP_001124453.1:p.Arg2038Pro
NM_001130982.2:c.6095G>C	NP_001124454.1:p.Arg2032Pro
NM_001130983.2:c.6065G>C	NP_001124455.1:p.Arg2022Pro
NM_001130984.2:c.6023G>C	NP_001124456.1:p.Arg2008Pro
NM_001130985.2:c.6053G>C	NP_001124457.1:p.Arg2018Pro
NM_001130986.2:c.5960G>C	NP_001124458.1:p.Arg1987Pro
NM_003494.4:c.5999G>C MANE Plus Clinical	NP_003485.1:p.Arg2000Pro