Canonical Allele Identifier: CA10607009
Community Standard Title: NM_001130987.2(DYSF):c.6155C>G (p.Pro2052Arg)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71681092C>G , CM000664.2:g.71681092C>G GRCh38
NC_000002.11:g.71908222C>G , CM000664.1:g.71908222C>G GRCh37
NC_000002.10:g.71761730C>G NCBI36
NG_008694.1:g.232470C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.6155C>G MANE Select NP_001124459.1:p.Pro2052Arg
ENST00000410020.8:c.6155C>G MANE Select ENSP00000386881.3:p.Pro2052Arg
NM_003494.4:c.6038C>G MANE Plus Clinical NP_003485.1:p.Pro2013Arg
ENST00000258104.8:c.6038C>G MANE Plus Clinical ENSP00000258104.3:p.Pro2013Arg
NM_001130455.1:c.6041C>G NP_001123927.1:p.Pro2014Arg
NM_001130455.2:c.6041C>G NP_001123927.1:p.Pro2014Arg
NM_001130976.1:c.5996C>G NP_001124448.1:p.Pro1999Arg
NM_001130976.2:c.5996C>G NP_001124448.1:p.Pro1999Arg
NM_001130977.1:c.6059C>G NP_001124449.1:p.Pro2020Arg
NM_001130977.2:c.6059C>G NP_001124449.1:p.Pro2020Arg
NM_001130978.1:c.6101C>G NP_001124450.1:p.Pro2034Arg
NM_001130978.2:c.6101C>G NP_001124450.1:p.Pro2034Arg
NM_001130979.1:c.6131C>G NP_001124451.1:p.Pro2044Arg
NM_001130979.2:c.6131C>G NP_001124451.1:p.Pro2044Arg
NM_001130980.1:c.6089C>G NP_001124452.1:p.Pro2030Arg
NM_001130980.2:c.6089C>G NP_001124452.1:p.Pro2030Arg
NM_001130981.1:c.6152C>G NP_001124453.1:p.Pro2051Arg
NM_001130981.2:c.6152C>G NP_001124453.1:p.Pro2051Arg
NM_001130982.1:c.6134C>G NP_001124454.1:p.Pro2045Arg
NM_001130982.2:c.6134C>G NP_001124454.1:p.Pro2045Arg
NM_001130983.1:c.6104C>G NP_001124455.1:p.Pro2035Arg
NM_001130983.2:c.6104C>G NP_001124455.1:p.Pro2035Arg
NM_001130984.1:c.6062C>G NP_001124456.1:p.Pro2021Arg
NM_001130984.2:c.6062C>G NP_001124456.1:p.Pro2021Arg
NM_001130985.1:c.6092C>G NP_001124457.1:p.Pro2031Arg
NM_001130985.2:c.6092C>G NP_001124457.1:p.Pro2031Arg
NM_001130986.1:c.5999C>G NP_001124458.1:p.Pro2000Arg
NM_001130986.2:c.5999C>G NP_001124458.1:p.Pro2000Arg
NM_001130987.1:c.6155C>G NP_001124459.1:p.Pro2052Arg
NM_003494.3:c.6038C>G NP_003485.1:p.Pro2013Arg
ENST00000258104.7:c.6038C>G ENSP00000258104.3:p.Pro2013Arg
ENST00000394120.6:c.6041C>G ENSP00000377678.2:p.Pro2014Arg
ENST00000409366.5:c.6104C>G ENSP00000386512.1:p.Pro2035Arg
ENST00000409582.7:c.6152C>G ENSP00000386547.3:p.Pro2051Arg
ENST00000409651.5:c.6134C>G ENSP00000386683.1:p.Pro2045Arg
ENST00000409744.5:c.6062C>G ENSP00000386285.1:p.Pro2021Arg
ENST00000409762.5:c.6089C>G ENSP00000387137.1:p.Pro2030Arg
ENST00000410020.7:c.6155C>G ENSP00000386881.3:p.Pro2052Arg
ENST00000410041.1:c.6092C>G ENSP00000386617.1:p.Pro2031Arg
ENST00000413539.6:c.6131C>G ENSP00000407046.2:p.Pro2044Arg
ENST00000429174.6:c.6101C>G ENSP00000398305.2:p.Pro2034Arg
ENST00000479049.6:n.2923C>G
ENST00000698057.1:c.3569C>G ENSP00000513536.1:p.Pro1190Arg
ENST00000698058.1:c.2786C>G ENSP00000513537.1:p.Pro929Arg
ENST00000698059.1:c.2894C>G ENSP00000513538.1:p.Pro965Arg
XM_005264584.3:c.6197C>G XP_005264641.1:p.Pro2066Arg
XM_005264584.4:c.6197C>G XP_005264641.1:p.Pro2066Arg
XM_005264585.3:c.6194C>G XP_005264642.1:p.Pro2065Arg
XM_005264585.5:c.6194C>G XP_005264642.1:p.Pro2065Arg