Canonical Allele Identifier: CA347220902

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71665163T>C , CM000664.2:g.71665163T>C	GRCh38
NC_000002.11:g.71892293T>C , CM000664.1:g.71892293T>C	GRCh37
NC_000002.10:g.71745801T>C	NCBI36
NG_008694.1:g.216541T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5176T>C MANE Select	NP_001124459.1:p.Ser1726Pro
ENST00000410020.8:c.5176T>C MANE Select	ENSP00000386881.3:p.Ser1726Pro
NM_003494.4:c.5059T>C MANE Plus Clinical	NP_003485.1:p.Ser1687Pro
ENST00000258104.8:c.5059T>C MANE Plus Clinical	ENSP00000258104.3:p.Ser1687Pro
NM_001130455.1:c.5062T>C	NP_001123927.1:p.Ser1688Pro
NM_001130455.2:c.5062T>C	NP_001123927.1:p.Ser1688Pro
NM_001130976.1:c.5017T>C	NP_001124448.1:p.Ser1673Pro
NM_001130976.2:c.5017T>C	NP_001124448.1:p.Ser1673Pro
NM_001130977.1:c.5080T>C	NP_001124449.1:p.Ser1694Pro
NM_001130977.2:c.5080T>C	NP_001124449.1:p.Ser1694Pro
NM_001130978.1:c.5122T>C	NP_001124450.1:p.Ser1708Pro
NM_001130978.2:c.5122T>C	NP_001124450.1:p.Ser1708Pro
NM_001130979.1:c.5152T>C	NP_001124451.1:p.Ser1718Pro
NM_001130979.2:c.5152T>C	NP_001124451.1:p.Ser1718Pro
NM_001130980.1:c.5110T>C	NP_001124452.1:p.Ser1704Pro
NM_001130980.2:c.5110T>C	NP_001124452.1:p.Ser1704Pro
NM_001130981.1:c.5173T>C	NP_001124453.1:p.Ser1725Pro
NM_001130981.2:c.5173T>C	NP_001124453.1:p.Ser1725Pro
NM_001130982.1:c.5155T>C	NP_001124454.1:p.Ser1719Pro
NM_001130982.2:c.5155T>C	NP_001124454.1:p.Ser1719Pro
NM_001130983.1:c.5125T>C	NP_001124455.1:p.Ser1709Pro
NM_001130983.2:c.5125T>C	NP_001124455.1:p.Ser1709Pro
NM_001130984.1:c.5083T>C	NP_001124456.1:p.Ser1695Pro
NM_001130984.2:c.5083T>C	NP_001124456.1:p.Ser1695Pro
NM_001130985.1:c.5113T>C	NP_001124457.1:p.Ser1705Pro
NM_001130985.2:c.5113T>C	NP_001124457.1:p.Ser1705Pro
NM_001130986.1:c.5020T>C	NP_001124458.1:p.Ser1674Pro
NM_001130986.2:c.5020T>C	NP_001124458.1:p.Ser1674Pro
NM_001130987.1:c.5176T>C	NP_001124459.1:p.Ser1726Pro
NM_003494.3:c.5059T>C	NP_003485.1:p.Ser1687Pro
ENST00000258104.7:c.5059T>C	ENSP00000258104.3:p.Ser1687Pro
ENST00000394120.6:c.5062T>C	ENSP00000377678.2:p.Ser1688Pro
ENST00000409366.5:c.5125T>C	ENSP00000386512.1:p.Ser1709Pro
ENST00000409582.7:c.5173T>C	ENSP00000386547.3:p.Ser1725Pro
ENST00000409651.5:c.5155T>C	ENSP00000386683.1:p.Ser1719Pro
ENST00000409744.5:c.5083T>C	ENSP00000386285.1:p.Ser1695Pro
ENST00000409762.5:c.5110T>C	ENSP00000387137.1:p.Ser1704Pro
ENST00000410020.7:c.5176T>C	ENSP00000386881.3:p.Ser1726Pro
ENST00000410041.1:c.5113T>C	ENSP00000386617.1:p.Ser1705Pro
ENST00000413539.6:c.5152T>C	ENSP00000407046.2:p.Ser1718Pro
ENST00000429174.6:c.5122T>C	ENSP00000398305.2:p.Ser1708Pro
ENST00000479049.6:n.1944T>C
ENST00000698057.1:c.2590T>C	ENSP00000513536.1:p.Ser864Pro
ENST00000698058.1:c.1807T>C	ENSP00000513537.1:p.Ser603Pro
ENST00000698059.1:c.1915T>C	ENSP00000513538.1:p.Ser639Pro
XM_005264584.3:c.5218T>C	XP_005264641.1:p.Ser1740Pro
XM_005264584.4:c.5218T>C	XP_005264641.1:p.Ser1740Pro
XM_005264585.3:c.5215T>C	XP_005264642.1:p.Ser1739Pro
XM_005264585.5:c.5215T>C	XP_005264642.1:p.Ser1739Pro
XR_001738969.1:n.5574T>C