Canonical Allele Identifier: CA1705253
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284816
dbSNP Id: rs114986640
gnomAD v2: 2-71709066-G-C
gnomAD v3: 2-71481936-G-C
gnomAD v4: 2-71481936-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71481936G>C , CM000664.2:g.71481936G>C GRCh38
NC_000002.11:g.71709066G>C , CM000664.1:g.71709066G>C GRCh37
NC_000002.10:g.71562574G>C NCBI36
NG_008694.1:g.33314G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258104.8:c.202G>C MANE Plus Clinical ENSP00000258104.3:p.Val68Leu
ENST00000410020.8:c.205G>C MANE Select ENSP00000386881.3:p.Val69Leu
ENST00000258104.7:c.202G>C ENSP00000258104.3:p.Val68Leu
ENST00000394120.6:c.205G>C ENSP00000377678.2:p.Val69Leu
ENST00000409366.5:c.205G>C ENSP00000386512.1:p.Val69Leu
ENST00000409582.7:c.202G>C ENSP00000386547.3:p.Val68Leu
ENST00000409651.5:c.205G>C ENSP00000386683.1:p.Val69Leu
ENST00000409744.5:c.205G>C ENSP00000386285.1:p.Val69Leu
ENST00000409762.5:c.202G>C ENSP00000387137.1:p.Val68Leu
ENST00000410020.7:c.205G>C ENSP00000386881.3:p.Val69Leu
ENST00000410041.1:c.205G>C ENSP00000386617.1:p.Val69Leu
ENST00000413539.6:c.202G>C ENSP00000407046.2:p.Val68Leu
ENST00000429174.6:c.202G>C ENSP00000398305.2:p.Val68Leu
NM_001130455.1:c.205G>C NP_001123927.1:p.Val69Leu
NM_001130976.1:c.202G>C NP_001124448.1:p.Val68Leu
NM_001130977.1:c.202G>C NP_001124449.1:p.Val68Leu
NM_001130978.1:c.202G>C NP_001124450.1:p.Val68Leu
NM_001130979.1:c.202G>C NP_001124451.1:p.Val68Leu
NM_001130980.1:c.202G>C NP_001124452.1:p.Val68Leu
NM_001130981.1:c.202G>C NP_001124453.1:p.Val68Leu
NM_001130982.1:c.205G>C NP_001124454.1:p.Val69Leu
NM_001130983.1:c.205G>C NP_001124455.1:p.Val69Leu
NM_001130984.1:c.205G>C NP_001124456.1:p.Val69Leu
NM_001130985.1:c.205G>C NP_001124457.1:p.Val69Leu
NM_001130986.1:c.205G>C NP_001124458.1:p.Val69Leu
NM_001130987.1:c.205G>C NP_001124459.1:p.Val69Leu
NM_003494.3:c.202G>C NP_003485.1:p.Val68Leu
XM_005264584.3:c.205G>C XP_005264641.1:p.Val69Leu
XM_005264585.3:c.202G>C XP_005264642.1:p.Val68Leu
XM_005264584.4:c.205G>C XP_005264641.1:p.Val69Leu
XM_005264585.5:c.202G>C XP_005264642.1:p.Val68Leu
XR_001738969.1:n.363G>C
NM_001130987.2:c.205G>C MANE Select NP_001124459.1:p.Val69Leu
NM_001130455.2:c.205G>C NP_001123927.1:p.Val69Leu
NM_001130976.2:c.202G>C NP_001124448.1:p.Val68Leu
NM_001130977.2:c.202G>C NP_001124449.1:p.Val68Leu
NM_001130978.2:c.202G>C NP_001124450.1:p.Val68Leu
NM_001130979.2:c.202G>C NP_001124451.1:p.Val68Leu
NM_001130980.2:c.202G>C NP_001124452.1:p.Val68Leu
NM_001130981.2:c.202G>C NP_001124453.1:p.Val68Leu
NM_001130982.2:c.205G>C NP_001124454.1:p.Val69Leu
NM_001130983.2:c.205G>C NP_001124455.1:p.Val69Leu
NM_001130984.2:c.205G>C NP_001124456.1:p.Val69Leu
NM_001130985.2:c.205G>C NP_001124457.1:p.Val69Leu
NM_001130986.2:c.205G>C NP_001124458.1:p.Val69Leu
NM_003494.4:c.202G>C MANE Plus Clinical NP_003485.1:p.Val68Leu