Canonical Allele Identifier: CA646934292

Gene: DYSF

Linked Data

• gnomAD v4: 2-71602694-T-C
• COSMIC: COSN5509744

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71602694T>C , CM000664.2:g.71602694T>C	GRCh38
NC_000002.11:g.71829824T>C , CM000664.1:g.71829824T>C	GRCh37
NC_000002.10:g.71683332T>C	NCBI36
NG_008694.1:g.154072T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.1300-82T>C	ENSP00000513536.1:n.1300-82T>C
ENST00000698058.1:c.517-82T>C	ENSP00000513537.1:n.517-82T>C
ENST00000698059.1:c.517-82T>C	ENSP00000513538.1:n.517-82T>C
ENST00000258104.8:c.3874-82T>C MANE Plus Clinical	ENSP00000258104.3:n.3874-82T>C
ENST00000410020.8:c.3928-82T>C MANE Select	ENSP00000386881.3:n.3928-82T>C
ENST00000258104.7:c.3874-82T>C	ENSP00000258104.3:n.3874-82T>C
ENST00000394120.6:c.3877-82T>C	ENSP00000377678.2:n.3877-82T>C
ENST00000409366.5:c.3877-82T>C	ENSP00000386512.1:n.3877-82T>C
ENST00000409582.7:c.3925-82T>C	ENSP00000386547.3:n.3925-82T>C
ENST00000409651.5:c.3970-82T>C	ENSP00000386683.1:n.3970-82T>C
ENST00000409744.5:c.3835-82T>C	ENSP00000386285.1:n.3835-82T>C
ENST00000409762.5:c.3925-82T>C	ENSP00000387137.1:n.3925-82T>C
ENST00000410020.7:c.3928-82T>C	ENSP00000386881.3:n.3928-82T>C
ENST00000410041.1:c.3928-82T>C	ENSP00000386617.1:n.3928-82T>C
ENST00000413539.6:c.3967-82T>C	ENSP00000407046.2:n.3967-82T>C
ENST00000429174.6:c.3874-82T>C	ENSP00000398305.2:n.3874-82T>C
ENST00000472873.5:n.258-82T>C
ENST00000479049.6:n.759-82T>C
ENST00000487180.5:n.11T>C
ENST00000494501.5:n.234-82T>C
NM_001130455.1:c.3877-82T>C	NP_001123927.1:n.3877-82T>C
NM_001130976.1:c.3832-82T>C	NP_001124448.1:n.3832-82T>C
NM_001130977.1:c.3832-82T>C	NP_001124449.1:n.3832-82T>C
NM_001130978.1:c.3874-82T>C	NP_001124450.1:n.3874-82T>C
NM_001130979.1:c.3967-82T>C	NP_001124451.1:n.3967-82T>C
NM_001130980.1:c.3925-82T>C	NP_001124452.1:n.3925-82T>C
NM_001130981.1:c.3925-82T>C	NP_001124453.1:n.3925-82T>C
NM_001130982.1:c.3970-82T>C	NP_001124454.1:n.3970-82T>C
NM_001130983.1:c.3877-82T>C	NP_001124455.1:n.3877-82T>C
NM_001130984.1:c.3835-82T>C	NP_001124456.1:n.3835-82T>C
NM_001130985.1:c.3928-82T>C	NP_001124457.1:n.3928-82T>C
NM_001130986.1:c.3835-82T>C	NP_001124458.1:n.3835-82T>C
NM_001130987.1:c.3928-82T>C	NP_001124459.1:n.3928-82T>C
NM_003494.3:c.3874-82T>C	NP_003485.1:n.3874-82T>C
XM_005264584.3:c.3970-82T>C	XP_005264641.1:n.3970-82T>C
XM_005264585.3:c.3967-82T>C	XP_005264642.1:n.3967-82T>C
XM_005264584.4:c.3970-82T>C	XP_005264641.1:n.3970-82T>C
XM_005264585.5:c.3967-82T>C	XP_005264642.1:n.3967-82T>C
XR_001738969.1:n.4128-82T>C
NM_001130987.2:c.3928-82T>C MANE Select	NP_001124459.1:n.3928-82T>C
NM_001130455.2:c.3877-82T>C	NP_001123927.1:n.3877-82T>C
NM_001130976.2:c.3832-82T>C	NP_001124448.1:n.3832-82T>C
NM_001130977.2:c.3832-82T>C	NP_001124449.1:n.3832-82T>C
NM_001130978.2:c.3874-82T>C	NP_001124450.1:n.3874-82T>C
NM_001130979.2:c.3967-82T>C	NP_001124451.1:n.3967-82T>C
NM_001130980.2:c.3925-82T>C	NP_001124452.1:n.3925-82T>C
NM_001130981.2:c.3925-82T>C	NP_001124453.1:n.3925-82T>C
NM_001130982.2:c.3970-82T>C	NP_001124454.1:n.3970-82T>C
NM_001130983.2:c.3877-82T>C	NP_001124455.1:n.3877-82T>C
NM_001130984.2:c.3835-82T>C	NP_001124456.1:n.3835-82T>C
NM_001130985.2:c.3928-82T>C	NP_001124457.1:n.3928-82T>C
NM_001130986.2:c.3835-82T>C	NP_001124458.1:n.3835-82T>C
NM_003494.4:c.3874-82T>C MANE Plus Clinical	NP_003485.1:n.3874-82T>C