Canonical Allele Identifier: CA347220124
Community Standard Title: NM_001130987.2(DYSF):c.5000G>T (p.Gly1667Val)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71660648G>T , CM000664.2:g.71660648G>T GRCh38
NC_000002.11:g.71887778G>T , CM000664.1:g.71887778G>T GRCh37
NC_000002.10:g.71741286G>T NCBI36
NG_008694.1:g.212026G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5000G>T MANE Select NP_001124459.1:p.Gly1667Val
ENST00000410020.8:c.5000G>T MANE Select ENSP00000386881.3:p.Gly1667Val
NM_003494.4:c.4883G>T MANE Plus Clinical NP_003485.1:p.Gly1628Val
ENST00000258104.8:c.4883G>T MANE Plus Clinical ENSP00000258104.3:p.Gly1628Val
NM_001130455.1:c.4886G>T NP_001123927.1:p.Gly1629Val
NM_001130455.2:c.4886G>T NP_001123927.1:p.Gly1629Val
NM_001130976.1:c.4841G>T NP_001124448.1:p.Gly1614Val
NM_001130976.2:c.4841G>T NP_001124448.1:p.Gly1614Val
NM_001130977.1:c.4904G>T NP_001124449.1:p.Gly1635Val
NM_001130977.2:c.4904G>T NP_001124449.1:p.Gly1635Val
NM_001130978.1:c.4946G>T NP_001124450.1:p.Gly1649Val
NM_001130978.2:c.4946G>T NP_001124450.1:p.Gly1649Val
NM_001130979.1:c.4976G>T NP_001124451.1:p.Gly1659Val
NM_001130979.2:c.4976G>T NP_001124451.1:p.Gly1659Val
NM_001130980.1:c.4934G>T NP_001124452.1:p.Gly1645Val
NM_001130980.2:c.4934G>T NP_001124452.1:p.Gly1645Val
NM_001130981.1:c.4997G>T NP_001124453.1:p.Gly1666Val
NM_001130981.2:c.4997G>T NP_001124453.1:p.Gly1666Val
NM_001130982.1:c.4979G>T NP_001124454.1:p.Gly1660Val
NM_001130982.2:c.4979G>T NP_001124454.1:p.Gly1660Val
NM_001130983.1:c.4949G>T NP_001124455.1:p.Gly1650Val
NM_001130983.2:c.4949G>T NP_001124455.1:p.Gly1650Val
NM_001130984.1:c.4907G>T NP_001124456.1:p.Gly1636Val
NM_001130984.2:c.4907G>T NP_001124456.1:p.Gly1636Val
NM_001130985.1:c.4937G>T NP_001124457.1:p.Gly1646Val
NM_001130985.2:c.4937G>T NP_001124457.1:p.Gly1646Val
NM_001130986.1:c.4844G>T NP_001124458.1:p.Gly1615Val
NM_001130986.2:c.4844G>T NP_001124458.1:p.Gly1615Val
NM_001130987.1:c.5000G>T NP_001124459.1:p.Gly1667Val
NM_003494.3:c.4883G>T NP_003485.1:p.Gly1628Val
ENST00000258104.7:c.4883G>T ENSP00000258104.3:p.Gly1628Val
ENST00000394120.6:c.4886G>T ENSP00000377678.2:p.Gly1629Val
ENST00000409366.5:c.4949G>T ENSP00000386512.1:p.Gly1650Val
ENST00000409582.7:c.4997G>T ENSP00000386547.3:p.Gly1666Val
ENST00000409651.5:c.4979G>T ENSP00000386683.1:p.Gly1660Val
ENST00000409744.5:c.4907G>T ENSP00000386285.1:p.Gly1636Val
ENST00000409762.5:c.4934G>T ENSP00000387137.1:p.Gly1645Val
ENST00000410020.7:c.5000G>T ENSP00000386881.3:p.Gly1667Val
ENST00000410041.1:c.4937G>T ENSP00000386617.1:p.Gly1646Val
ENST00000413539.6:c.4976G>T ENSP00000407046.2:p.Gly1659Val
ENST00000429174.6:c.4946G>T ENSP00000398305.2:p.Gly1649Val
ENST00000479049.6:n.1768G>T
ENST00000698057.1:c.2414G>T ENSP00000513536.1:p.Gly805Val
ENST00000698058.1:c.1631G>T ENSP00000513537.1:p.Gly544Val
ENST00000698059.1:c.1739G>T ENSP00000513538.1:p.Gly580Val
XM_005264584.3:c.5042G>T XP_005264641.1:p.Gly1681Val
XM_005264584.4:c.5042G>T XP_005264641.1:p.Gly1681Val
XM_005264585.3:c.5039G>T XP_005264642.1:p.Gly1680Val
XM_005264585.5:c.5039G>T XP_005264642.1:p.Gly1680Val
XR_001738969.1:n.5200G>T