Canonical Allele Identifier: CA1707604
Community Standard Title: NM_001130987.2(DYSF):c.6148A>G (p.Met2050Val)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71681085A>G , CM000664.2:g.71681085A>G GRCh38
NC_000002.11:g.71908215A>G , CM000664.1:g.71908215A>G GRCh37
NC_000002.10:g.71761723A>G NCBI36
NG_008694.1:g.232463A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.6148A>G MANE Select NP_001124459.1:p.Met2050Val
ENST00000410020.8:c.6148A>G MANE Select ENSP00000386881.3:p.Met2050Val
NM_003494.4:c.6031A>G MANE Plus Clinical NP_003485.1:p.Met2011Val
ENST00000258104.8:c.6031A>G MANE Plus Clinical ENSP00000258104.3:p.Met2011Val
NM_001130455.1:c.6034A>G NP_001123927.1:p.Met2012Val
NM_001130455.2:c.6034A>G NP_001123927.1:p.Met2012Val
NM_001130976.1:c.5989A>G NP_001124448.1:p.Met1997Val
NM_001130976.2:c.5989A>G NP_001124448.1:p.Met1997Val
NM_001130977.1:c.6052A>G NP_001124449.1:p.Met2018Val
NM_001130977.2:c.6052A>G NP_001124449.1:p.Met2018Val
NM_001130978.1:c.6094A>G NP_001124450.1:p.Met2032Val
NM_001130978.2:c.6094A>G NP_001124450.1:p.Met2032Val
NM_001130979.1:c.6124A>G NP_001124451.1:p.Met2042Val
NM_001130979.2:c.6124A>G NP_001124451.1:p.Met2042Val
NM_001130980.1:c.6082A>G NP_001124452.1:p.Met2028Val
NM_001130980.2:c.6082A>G NP_001124452.1:p.Met2028Val
NM_001130981.1:c.6145A>G NP_001124453.1:p.Met2049Val
NM_001130981.2:c.6145A>G NP_001124453.1:p.Met2049Val
NM_001130982.1:c.6127A>G NP_001124454.1:p.Met2043Val
NM_001130982.2:c.6127A>G NP_001124454.1:p.Met2043Val
NM_001130983.1:c.6097A>G NP_001124455.1:p.Met2033Val
NM_001130983.2:c.6097A>G NP_001124455.1:p.Met2033Val
NM_001130984.1:c.6055A>G NP_001124456.1:p.Met2019Val
NM_001130984.2:c.6055A>G NP_001124456.1:p.Met2019Val
NM_001130985.1:c.6085A>G NP_001124457.1:p.Met2029Val
NM_001130985.2:c.6085A>G NP_001124457.1:p.Met2029Val
NM_001130986.1:c.5992A>G NP_001124458.1:p.Met1998Val
NM_001130986.2:c.5992A>G NP_001124458.1:p.Met1998Val
NM_001130987.1:c.6148A>G NP_001124459.1:p.Met2050Val
NM_003494.3:c.6031A>G NP_003485.1:p.Met2011Val
ENST00000258104.7:c.6031A>G ENSP00000258104.3:p.Met2011Val
ENST00000394120.6:c.6034A>G ENSP00000377678.2:p.Met2012Val
ENST00000409366.5:c.6097A>G ENSP00000386512.1:p.Met2033Val
ENST00000409582.7:c.6145A>G ENSP00000386547.3:p.Met2049Val
ENST00000409651.5:c.6127A>G ENSP00000386683.1:p.Met2043Val
ENST00000409744.5:c.6055A>G ENSP00000386285.1:p.Met2019Val
ENST00000409762.5:c.6082A>G ENSP00000387137.1:p.Met2028Val
ENST00000410020.7:c.6148A>G ENSP00000386881.3:p.Met2050Val
ENST00000410041.1:c.6085A>G ENSP00000386617.1:p.Met2029Val
ENST00000413539.6:c.6124A>G ENSP00000407046.2:p.Met2042Val
ENST00000429174.6:c.6094A>G ENSP00000398305.2:p.Met2032Val
ENST00000479049.6:n.2916A>G
ENST00000698057.1:c.3562A>G ENSP00000513536.1:p.Met1188Val
ENST00000698058.1:c.2779A>G ENSP00000513537.1:p.Met927Val
ENST00000698059.1:c.2887A>G ENSP00000513538.1:p.Met963Val
XM_005264584.3:c.6190A>G XP_005264641.1:p.Met2064Val
XM_005264584.4:c.6190A>G XP_005264641.1:p.Met2064Val
XM_005264585.3:c.6187A>G XP_005264642.1:p.Met2063Val
XM_005264585.5:c.6187A>G XP_005264642.1:p.Met2063Val