Canonical Allele Identifier: CA49751156
Community Standard Title: NM_001130987.2(DYSF):c.4619C>T (p.Thr1540Ile)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71644056C>T , CM000664.2:g.71644056C>T GRCh38
NC_000002.11:g.71871186C>T , CM000664.1:g.71871186C>T GRCh37
NC_000002.10:g.71724694C>T NCBI36
NG_008694.1:g.195434C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4619C>T MANE Select NP_001124459.1:p.Thr1540Ile
ENST00000410020.8:c.4619C>T MANE Select ENSP00000386881.3:p.Thr1540Ile
NM_003494.4:c.4502C>T MANE Plus Clinical NP_003485.1:p.Thr1501Ile
ENST00000258104.8:c.4502C>T MANE Plus Clinical ENSP00000258104.3:p.Thr1501Ile
NM_001130455.1:c.4505C>T NP_001123927.1:p.Thr1502Ile
NM_001130455.2:c.4505C>T NP_001123927.1:p.Thr1502Ile
NM_001130976.1:c.4460C>T NP_001124448.1:p.Thr1487Ile
NM_001130976.2:c.4460C>T NP_001124448.1:p.Thr1487Ile
NM_001130977.1:c.4523C>T NP_001124449.1:p.Thr1508Ile
NM_001130977.2:c.4523C>T NP_001124449.1:p.Thr1508Ile
NM_001130978.1:c.4565C>T NP_001124450.1:p.Thr1522Ile
NM_001130978.2:c.4565C>T NP_001124450.1:p.Thr1522Ile
NM_001130979.1:c.4595C>T NP_001124451.1:p.Thr1532Ile
NM_001130979.2:c.4595C>T NP_001124451.1:p.Thr1532Ile
NM_001130980.1:c.4553C>T NP_001124452.1:p.Thr1518Ile
NM_001130980.2:c.4553C>T NP_001124452.1:p.Thr1518Ile
NM_001130981.1:c.4616C>T NP_001124453.1:p.Thr1539Ile
NM_001130981.2:c.4616C>T NP_001124453.1:p.Thr1539Ile
NM_001130982.1:c.4598C>T NP_001124454.1:p.Thr1533Ile
NM_001130982.2:c.4598C>T NP_001124454.1:p.Thr1533Ile
NM_001130983.1:c.4568C>T NP_001124455.1:p.Thr1523Ile
NM_001130983.2:c.4568C>T NP_001124455.1:p.Thr1523Ile
NM_001130984.1:c.4526C>T NP_001124456.1:p.Thr1509Ile
NM_001130984.2:c.4526C>T NP_001124456.1:p.Thr1509Ile
NM_001130985.1:c.4556C>T NP_001124457.1:p.Thr1519Ile
NM_001130985.2:c.4556C>T NP_001124457.1:p.Thr1519Ile
NM_001130986.1:c.4463C>T NP_001124458.1:p.Thr1488Ile
NM_001130986.2:c.4463C>T NP_001124458.1:p.Thr1488Ile
NM_001130987.1:c.4619C>T NP_001124459.1:p.Thr1540Ile
NM_003494.3:c.4502C>T NP_003485.1:p.Thr1501Ile
ENST00000258104.7:c.4502C>T ENSP00000258104.3:p.Thr1501Ile
ENST00000394120.6:c.4505C>T ENSP00000377678.2:p.Thr1502Ile
ENST00000409366.5:c.4568C>T ENSP00000386512.1:p.Thr1523Ile
ENST00000409582.7:c.4616C>T ENSP00000386547.3:p.Thr1539Ile
ENST00000409651.5:c.4598C>T ENSP00000386683.1:p.Thr1533Ile
ENST00000409744.5:c.4526C>T ENSP00000386285.1:p.Thr1509Ile
ENST00000409762.5:c.4553C>T ENSP00000387137.1:p.Thr1518Ile
ENST00000410020.7:c.4619C>T ENSP00000386881.3:p.Thr1540Ile
ENST00000410041.1:c.4556C>T ENSP00000386617.1:p.Thr1519Ile
ENST00000413539.6:c.4595C>T ENSP00000407046.2:p.Thr1532Ile
ENST00000429174.6:c.4565C>T ENSP00000398305.2:p.Thr1522Ile
ENST00000479049.6:n.1387C>T
ENST00000698057.1:c.2033C>T ENSP00000513536.1:p.Thr678Ile
ENST00000698058.1:c.1250C>T ENSP00000513537.1:p.Thr417Ile
ENST00000698059.1:c.1358C>T ENSP00000513538.1:p.Thr453Ile
XM_005264584.3:c.4661C>T XP_005264641.1:p.Thr1554Ile
XM_005264584.4:c.4661C>T XP_005264641.1:p.Thr1554Ile
XM_005264585.3:c.4658C>T XP_005264642.1:p.Thr1553Ile
XM_005264585.5:c.4658C>T XP_005264642.1:p.Thr1553Ile
XR_001738969.1:n.4819C>T