Canonical Allele Identifier: CA347219916
Community Standard Title: NM_001130987.2(DYSF):c.4909A>T (p.Lys1637Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71659031A>T , CM000664.2:g.71659031A>T GRCh38
NC_000002.11:g.71886161A>T , CM000664.1:g.71886161A>T GRCh37
NC_000002.10:g.71739669A>T NCBI36
NG_008694.1:g.210409A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4909A>T MANE Select NP_001124459.1:p.Lys1637Ter
ENST00000410020.8:c.4909A>T MANE Select ENSP00000386881.3:p.Lys1637Ter
NM_003494.4:c.4792A>T MANE Plus Clinical NP_003485.1:p.Lys1598Ter
ENST00000258104.8:c.4792A>T MANE Plus Clinical ENSP00000258104.3:p.Lys1598Ter
NM_001130455.1:c.4795A>T NP_001123927.1:p.Lys1599Ter
NM_001130455.2:c.4795A>T NP_001123927.1:p.Lys1599Ter
NM_001130976.1:c.4750A>T NP_001124448.1:p.Lys1584Ter
NM_001130976.2:c.4750A>T NP_001124448.1:p.Lys1584Ter
NM_001130977.1:c.4813A>T NP_001124449.1:p.Lys1605Ter
NM_001130977.2:c.4813A>T NP_001124449.1:p.Lys1605Ter
NM_001130978.1:c.4855A>T NP_001124450.1:p.Lys1619Ter
NM_001130978.2:c.4855A>T NP_001124450.1:p.Lys1619Ter
NM_001130979.1:c.4885A>T NP_001124451.1:p.Lys1629Ter
NM_001130979.2:c.4885A>T NP_001124451.1:p.Lys1629Ter
NM_001130980.1:c.4843A>T NP_001124452.1:p.Lys1615Ter
NM_001130980.2:c.4843A>T NP_001124452.1:p.Lys1615Ter
NM_001130981.1:c.4906A>T NP_001124453.1:p.Lys1636Ter
NM_001130981.2:c.4906A>T NP_001124453.1:p.Lys1636Ter
NM_001130982.1:c.4888A>T NP_001124454.1:p.Lys1630Ter
NM_001130982.2:c.4888A>T NP_001124454.1:p.Lys1630Ter
NM_001130983.1:c.4858A>T NP_001124455.1:p.Lys1620Ter
NM_001130983.2:c.4858A>T NP_001124455.1:p.Lys1620Ter
NM_001130984.1:c.4816A>T NP_001124456.1:p.Lys1606Ter
NM_001130984.2:c.4816A>T NP_001124456.1:p.Lys1606Ter
NM_001130985.1:c.4846A>T NP_001124457.1:p.Lys1616Ter
NM_001130985.2:c.4846A>T NP_001124457.1:p.Lys1616Ter
NM_001130986.1:c.4753A>T NP_001124458.1:p.Lys1585Ter
NM_001130986.2:c.4753A>T NP_001124458.1:p.Lys1585Ter
NM_001130987.1:c.4909A>T NP_001124459.1:p.Lys1637Ter
NM_003494.3:c.4792A>T NP_003485.1:p.Lys1598Ter
ENST00000258104.7:c.4792A>T ENSP00000258104.3:p.Lys1598Ter
ENST00000394120.6:c.4795A>T ENSP00000377678.2:p.Lys1599Ter
ENST00000409366.5:c.4858A>T ENSP00000386512.1:p.Lys1620Ter
ENST00000409582.7:c.4906A>T ENSP00000386547.3:p.Lys1636Ter
ENST00000409651.5:c.4888A>T ENSP00000386683.1:p.Lys1630Ter
ENST00000409744.5:c.4816A>T ENSP00000386285.1:p.Lys1606Ter
ENST00000409762.5:c.4843A>T ENSP00000387137.1:p.Lys1615Ter
ENST00000410020.7:c.4909A>T ENSP00000386881.3:p.Lys1637Ter
ENST00000410041.1:c.4846A>T ENSP00000386617.1:p.Lys1616Ter
ENST00000413539.6:c.4885A>T ENSP00000407046.2:p.Lys1629Ter
ENST00000429174.6:c.4855A>T ENSP00000398305.2:p.Lys1619Ter
ENST00000479049.6:n.1677A>T
ENST00000698057.1:c.2323A>T ENSP00000513536.1:p.Lys775Ter
ENST00000698058.1:c.1540A>T ENSP00000513537.1:p.Lys514Ter
ENST00000698059.1:c.1648A>T ENSP00000513538.1:p.Lys550Ter
XM_005264584.3:c.4951A>T XP_005264641.1:p.Lys1651Ter
XM_005264584.4:c.4951A>T XP_005264641.1:p.Lys1651Ter
XM_005264585.3:c.4948A>T XP_005264642.1:p.Lys1650Ter
XM_005264585.5:c.4948A>T XP_005264642.1:p.Lys1650Ter
XR_001738969.1:n.5109A>T