Canonical Allele Identifier: CA10604103

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71668755G>A , CM000664.2:g.71668755G>A	GRCh38
NC_000002.11:g.71895885G>A , CM000664.1:g.71895885G>A	GRCh37
NC_000002.10:g.71749393G>A	NCBI36
NG_008694.1:g.220133G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5459G>A MANE Select	NP_001124459.1:p.Gly1820Glu
ENST00000410020.8:c.5459G>A MANE Select	ENSP00000386881.3:p.Gly1820Glu
NM_003494.4:c.5342G>A MANE Plus Clinical	NP_003485.1:p.Gly1781Glu
ENST00000258104.8:c.5342G>A MANE Plus Clinical	ENSP00000258104.3:p.Gly1781Glu
NM_001130455.1:c.5345G>A	NP_001123927.1:p.Gly1782Glu
NM_001130455.2:c.5345G>A	NP_001123927.1:p.Gly1782Glu
NM_001130976.1:c.5300G>A	NP_001124448.1:p.Gly1767Glu
NM_001130976.2:c.5300G>A	NP_001124448.1:p.Gly1767Glu
NM_001130977.1:c.5363G>A	NP_001124449.1:p.Gly1788Glu
NM_001130977.2:c.5363G>A	NP_001124449.1:p.Gly1788Glu
NM_001130978.1:c.5405G>A	NP_001124450.1:p.Gly1802Glu
NM_001130978.2:c.5405G>A	NP_001124450.1:p.Gly1802Glu
NM_001130979.1:c.5435G>A	NP_001124451.1:p.Gly1812Glu
NM_001130979.2:c.5435G>A	NP_001124451.1:p.Gly1812Glu
NM_001130980.1:c.5393G>A	NP_001124452.1:p.Gly1798Glu
NM_001130980.2:c.5393G>A	NP_001124452.1:p.Gly1798Glu
NM_001130981.1:c.5456G>A	NP_001124453.1:p.Gly1819Glu
NM_001130981.2:c.5456G>A	NP_001124453.1:p.Gly1819Glu
NM_001130982.1:c.5438G>A	NP_001124454.1:p.Gly1813Glu
NM_001130982.2:c.5438G>A	NP_001124454.1:p.Gly1813Glu
NM_001130983.1:c.5408G>A	NP_001124455.1:p.Gly1803Glu
NM_001130983.2:c.5408G>A	NP_001124455.1:p.Gly1803Glu
NM_001130984.1:c.5366G>A	NP_001124456.1:p.Gly1789Glu
NM_001130984.2:c.5366G>A	NP_001124456.1:p.Gly1789Glu
NM_001130985.1:c.5396G>A	NP_001124457.1:p.Gly1799Glu
NM_001130985.2:c.5396G>A	NP_001124457.1:p.Gly1799Glu
NM_001130986.1:c.5303G>A	NP_001124458.1:p.Gly1768Glu
NM_001130986.2:c.5303G>A	NP_001124458.1:p.Gly1768Glu
NM_001130987.1:c.5459G>A	NP_001124459.1:p.Gly1820Glu
NM_003494.3:c.5342G>A	NP_003485.1:p.Gly1781Glu
ENST00000258104.7:c.5342G>A	ENSP00000258104.3:p.Gly1781Glu
ENST00000394120.6:c.5345G>A	ENSP00000377678.2:p.Gly1782Glu
ENST00000409366.5:c.5408G>A	ENSP00000386512.1:p.Gly1803Glu
ENST00000409582.7:c.5456G>A	ENSP00000386547.3:p.Gly1819Glu
ENST00000409651.5:c.5438G>A	ENSP00000386683.1:p.Gly1813Glu
ENST00000409744.5:c.5366G>A	ENSP00000386285.1:p.Gly1789Glu
ENST00000409762.5:c.5393G>A	ENSP00000387137.1:p.Gly1798Glu
ENST00000410020.7:c.5459G>A	ENSP00000386881.3:p.Gly1820Glu
ENST00000410041.1:c.5396G>A	ENSP00000386617.1:p.Gly1799Glu
ENST00000413539.6:c.5435G>A	ENSP00000407046.2:p.Gly1812Glu
ENST00000429174.6:c.5405G>A	ENSP00000398305.2:p.Gly1802Glu
ENST00000479049.6:n.2227G>A
ENST00000698057.1:c.2873G>A	ENSP00000513536.1:p.Gly958Glu
ENST00000698058.1:c.2090G>A	ENSP00000513537.1:p.Gly697Glu
ENST00000698059.1:c.2198G>A	ENSP00000513538.1:p.Gly733Glu
XM_005264584.3:c.5501G>A	XP_005264641.1:p.Gly1834Glu
XM_005264584.4:c.5501G>A	XP_005264641.1:p.Gly1834Glu
XM_005264585.3:c.5498G>A	XP_005264642.1:p.Gly1833Glu
XM_005264585.5:c.5498G>A	XP_005264642.1:p.Gly1833Glu