Canonical Allele Identifier: CA347221548

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71667516G>A , CM000664.2:g.71667516G>A	GRCh38
NC_000002.11:g.71894646G>A , CM000664.1:g.71894646G>A	GRCh37
NC_000002.10:g.71748154G>A	NCBI36
NG_008694.1:g.218894G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130987.2:c.5457+1G>A MANE Select	NP_001124459.1:n.5457+1G>A
ENST00000410020.8:c.5457+1G>A MANE Select	ENSP00000386881.3:n.5457+1G>A
NM_003494.4:c.5340+1G>A MANE Plus Clinical	NP_003485.1:n.5340+1G>A
ENST00000258104.8:c.5340+1G>A MANE Plus Clinical	ENSP00000258104.3:n.5340+1G>A
NM_001130455.1:c.5343+1G>A	NP_001123927.1:n.5343+1G>A
NM_001130455.2:c.5343+1G>A	NP_001123927.1:n.5343+1G>A
NM_001130976.1:c.5298+1G>A	NP_001124448.1:n.5298+1G>A
NM_001130976.2:c.5298+1G>A	NP_001124448.1:n.5298+1G>A
NM_001130977.1:c.5361+1G>A	NP_001124449.1:n.5361+1G>A
NM_001130977.2:c.5361+1G>A	NP_001124449.1:n.5361+1G>A
NM_001130978.1:c.5403+1G>A	NP_001124450.1:n.5403+1G>A
NM_001130978.2:c.5403+1G>A	NP_001124450.1:n.5403+1G>A
NM_001130979.1:c.5433+1G>A	NP_001124451.1:n.5433+1G>A
NM_001130979.2:c.5433+1G>A	NP_001124451.1:n.5433+1G>A
NM_001130980.1:c.5391+1G>A	NP_001124452.1:n.5391+1G>A
NM_001130980.2:c.5391+1G>A	NP_001124452.1:n.5391+1G>A
NM_001130981.1:c.5454+1G>A	NP_001124453.1:n.5454+1G>A
NM_001130981.2:c.5454+1G>A	NP_001124453.1:n.5454+1G>A
NM_001130982.1:c.5436+1G>A	NP_001124454.1:n.5436+1G>A
NM_001130982.2:c.5436+1G>A	NP_001124454.1:n.5436+1G>A
NM_001130983.1:c.5406+1G>A	NP_001124455.1:n.5406+1G>A
NM_001130983.2:c.5406+1G>A	NP_001124455.1:n.5406+1G>A
NM_001130984.1:c.5364+1G>A	NP_001124456.1:n.5364+1G>A
NM_001130984.2:c.5364+1G>A	NP_001124456.1:n.5364+1G>A
NM_001130985.1:c.5394+1G>A	NP_001124457.1:n.5394+1G>A
NM_001130985.2:c.5394+1G>A	NP_001124457.1:n.5394+1G>A
NM_001130986.1:c.5301+1G>A	NP_001124458.1:n.5301+1G>A
NM_001130986.2:c.5301+1G>A	NP_001124458.1:n.5301+1G>A
NM_001130987.1:c.5457+1G>A	NP_001124459.1:n.5457+1G>A
NM_003494.3:c.5340+1G>A	NP_003485.1:n.5340+1G>A
ENST00000258104.7:c.5340+1G>A	ENSP00000258104.3:n.5340+1G>A
ENST00000394120.6:c.5343+1G>A	ENSP00000377678.2:n.5343+1G>A
ENST00000409366.5:c.5406+1G>A	ENSP00000386512.1:n.5406+1G>A
ENST00000409582.7:c.5454+1G>A	ENSP00000386547.3:n.5454+1G>A
ENST00000409651.5:c.5436+1G>A	ENSP00000386683.1:n.5436+1G>A
ENST00000409744.5:c.5364+1G>A	ENSP00000386285.1:n.5364+1G>A
ENST00000409762.5:c.5391+1G>A	ENSP00000387137.1:n.5391+1G>A
ENST00000410020.7:c.5457+1G>A	ENSP00000386881.3:n.5457+1G>A
ENST00000410041.1:c.5394+1G>A	ENSP00000386617.1:n.5394+1G>A
ENST00000413539.6:c.5433+1G>A	ENSP00000407046.2:n.5433+1G>A
ENST00000429174.6:c.5403+1G>A	ENSP00000398305.2:n.5403+1G>A
ENST00000479049.6:n.2225+1G>A
ENST00000698057.1:c.2871+1G>A	ENSP00000513536.1:n.2871+1G>A
ENST00000698058.1:c.2088+1G>A	ENSP00000513537.1:n.2088+1G>A
ENST00000698059.1:c.2196+1G>A	ENSP00000513538.1:n.2196+1G>A
XM_005264584.3:c.5499+1G>A	XP_005264641.1:n.5499+1G>A
XM_005264584.4:c.5499+1G>A	XP_005264641.1:n.5499+1G>A
XM_005264585.3:c.5496+1G>A	XP_005264642.1:n.5496+1G>A
XM_005264585.5:c.5496+1G>A	XP_005264642.1:n.5496+1G>A