Canonical Allele Identifier: CA347226445

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679165T>C , CM000664.2:g.71679165T>C	GRCh38
NC_000002.11:g.71906295T>C , CM000664.1:g.71906295T>C	GRCh37
NC_000002.10:g.71759803T>C	NCBI36
NG_008694.1:g.230543T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5993T>C MANE Select	NP_001124459.1:p.Leu1998Pro
ENST00000410020.8:c.5993T>C MANE Select	ENSP00000386881.3:p.Leu1998Pro
NM_003494.4:c.5876T>C MANE Plus Clinical	NP_003485.1:p.Leu1959Pro
ENST00000258104.8:c.5876T>C MANE Plus Clinical	ENSP00000258104.3:p.Leu1959Pro
NM_001130455.1:c.5879T>C	NP_001123927.1:p.Leu1960Pro
NM_001130455.2:c.5879T>C	NP_001123927.1:p.Leu1960Pro
NM_001130976.1:c.5834T>C	NP_001124448.1:p.Leu1945Pro
NM_001130976.2:c.5834T>C	NP_001124448.1:p.Leu1945Pro
NM_001130977.1:c.5897T>C	NP_001124449.1:p.Leu1966Pro
NM_001130977.2:c.5897T>C	NP_001124449.1:p.Leu1966Pro
NM_001130978.1:c.5939T>C	NP_001124450.1:p.Leu1980Pro
NM_001130978.2:c.5939T>C	NP_001124450.1:p.Leu1980Pro
NM_001130979.1:c.5969T>C	NP_001124451.1:p.Leu1990Pro
NM_001130979.2:c.5969T>C	NP_001124451.1:p.Leu1990Pro
NM_001130980.1:c.5927T>C	NP_001124452.1:p.Leu1976Pro
NM_001130980.2:c.5927T>C	NP_001124452.1:p.Leu1976Pro
NM_001130981.1:c.5990T>C	NP_001124453.1:p.Leu1997Pro
NM_001130981.2:c.5990T>C	NP_001124453.1:p.Leu1997Pro
NM_001130982.1:c.5972T>C	NP_001124454.1:p.Leu1991Pro
NM_001130982.2:c.5972T>C	NP_001124454.1:p.Leu1991Pro
NM_001130983.1:c.5942T>C	NP_001124455.1:p.Leu1981Pro
NM_001130983.2:c.5942T>C	NP_001124455.1:p.Leu1981Pro
NM_001130984.1:c.5900T>C	NP_001124456.1:p.Leu1967Pro
NM_001130984.2:c.5900T>C	NP_001124456.1:p.Leu1967Pro
NM_001130985.1:c.5930T>C	NP_001124457.1:p.Leu1977Pro
NM_001130985.2:c.5930T>C	NP_001124457.1:p.Leu1977Pro
NM_001130986.1:c.5837T>C	NP_001124458.1:p.Leu1946Pro
NM_001130986.2:c.5837T>C	NP_001124458.1:p.Leu1946Pro
NM_001130987.1:c.5993T>C	NP_001124459.1:p.Leu1998Pro
NM_003494.3:c.5876T>C	NP_003485.1:p.Leu1959Pro
ENST00000258104.7:c.5876T>C	ENSP00000258104.3:p.Leu1959Pro
ENST00000394120.6:c.5879T>C	ENSP00000377678.2:p.Leu1960Pro
ENST00000409366.5:c.5942T>C	ENSP00000386512.1:p.Leu1981Pro
ENST00000409582.7:c.5990T>C	ENSP00000386547.3:p.Leu1997Pro
ENST00000409651.5:c.5972T>C	ENSP00000386683.1:p.Leu1991Pro
ENST00000409744.5:c.5900T>C	ENSP00000386285.1:p.Leu1967Pro
ENST00000409762.5:c.5927T>C	ENSP00000387137.1:p.Leu1976Pro
ENST00000410020.7:c.5993T>C	ENSP00000386881.3:p.Leu1998Pro
ENST00000410041.1:c.5930T>C	ENSP00000386617.1:p.Leu1977Pro
ENST00000413539.6:c.5969T>C	ENSP00000407046.2:p.Leu1990Pro
ENST00000429174.6:c.5939T>C	ENSP00000398305.2:p.Leu1980Pro
ENST00000479049.6:n.2761T>C
ENST00000698057.1:c.3407T>C	ENSP00000513536.1:p.Leu1136Pro
ENST00000698058.1:c.2624T>C	ENSP00000513537.1:p.Leu875Pro
ENST00000698059.1:c.2732T>C	ENSP00000513538.1:p.Leu911Pro
XM_005264584.3:c.6035T>C	XP_005264641.1:p.Leu2012Pro
XM_005264584.4:c.6035T>C	XP_005264641.1:p.Leu2012Pro
XM_005264585.3:c.6032T>C	XP_005264642.1:p.Leu2011Pro
XM_005264585.5:c.6032T>C	XP_005264642.1:p.Leu2011Pro