Canonical Allele Identifier: CA347220121
Community Standard Title: NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71660647G>T , CM000664.2:g.71660647G>T GRCh38
NC_000002.11:g.71887777G>T , CM000664.1:g.71887777G>T GRCh37
NC_000002.10:g.71741285G>T NCBI36
NG_008694.1:g.212025G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4999G>T MANE Select NP_001124459.1:p.Gly1667Ter
ENST00000410020.8:c.4999G>T MANE Select ENSP00000386881.3:p.Gly1667Ter
NM_003494.4:c.4882G>T MANE Plus Clinical NP_003485.1:p.Gly1628Ter
ENST00000258104.8:c.4882G>T MANE Plus Clinical ENSP00000258104.3:p.Gly1628Ter
NM_001130455.1:c.4885G>T NP_001123927.1:p.Gly1629Ter
NM_001130455.2:c.4885G>T NP_001123927.1:p.Gly1629Ter
NM_001130976.1:c.4840G>T NP_001124448.1:p.Gly1614Ter
NM_001130976.2:c.4840G>T NP_001124448.1:p.Gly1614Ter
NM_001130977.1:c.4903G>T NP_001124449.1:p.Gly1635Ter
NM_001130977.2:c.4903G>T NP_001124449.1:p.Gly1635Ter
NM_001130978.1:c.4945G>T NP_001124450.1:p.Gly1649Ter
NM_001130978.2:c.4945G>T NP_001124450.1:p.Gly1649Ter
NM_001130979.1:c.4975G>T NP_001124451.1:p.Gly1659Ter
NM_001130979.2:c.4975G>T NP_001124451.1:p.Gly1659Ter
NM_001130980.1:c.4933G>T NP_001124452.1:p.Gly1645Ter
NM_001130980.2:c.4933G>T NP_001124452.1:p.Gly1645Ter
NM_001130981.1:c.4996G>T NP_001124453.1:p.Gly1666Ter
NM_001130981.2:c.4996G>T NP_001124453.1:p.Gly1666Ter
NM_001130982.1:c.4978G>T NP_001124454.1:p.Gly1660Ter
NM_001130982.2:c.4978G>T NP_001124454.1:p.Gly1660Ter
NM_001130983.1:c.4948G>T NP_001124455.1:p.Gly1650Ter
NM_001130983.2:c.4948G>T NP_001124455.1:p.Gly1650Ter
NM_001130984.1:c.4906G>T NP_001124456.1:p.Gly1636Ter
NM_001130984.2:c.4906G>T NP_001124456.1:p.Gly1636Ter
NM_001130985.1:c.4936G>T NP_001124457.1:p.Gly1646Ter
NM_001130985.2:c.4936G>T NP_001124457.1:p.Gly1646Ter
NM_001130986.1:c.4843G>T NP_001124458.1:p.Gly1615Ter
NM_001130986.2:c.4843G>T NP_001124458.1:p.Gly1615Ter
NM_001130987.1:c.4999G>T NP_001124459.1:p.Gly1667Ter
NM_003494.3:c.4882G>T NP_003485.1:p.Gly1628Ter
ENST00000258104.7:c.4882G>T ENSP00000258104.3:p.Gly1628Ter
ENST00000394120.6:c.4885G>T ENSP00000377678.2:p.Gly1629Ter
ENST00000409366.5:c.4948G>T ENSP00000386512.1:p.Gly1650Ter
ENST00000409582.7:c.4996G>T ENSP00000386547.3:p.Gly1666Ter
ENST00000409651.5:c.4978G>T ENSP00000386683.1:p.Gly1660Ter
ENST00000409744.5:c.4906G>T ENSP00000386285.1:p.Gly1636Ter
ENST00000409762.5:c.4933G>T ENSP00000387137.1:p.Gly1645Ter
ENST00000410020.7:c.4999G>T ENSP00000386881.3:p.Gly1667Ter
ENST00000410041.1:c.4936G>T ENSP00000386617.1:p.Gly1646Ter
ENST00000413539.6:c.4975G>T ENSP00000407046.2:p.Gly1659Ter
ENST00000429174.6:c.4945G>T ENSP00000398305.2:p.Gly1649Ter
ENST00000479049.6:n.1767G>T
ENST00000698057.1:c.2413G>T ENSP00000513536.1:p.Gly805Ter
ENST00000698058.1:c.1630G>T ENSP00000513537.1:p.Gly544Ter
ENST00000698059.1:c.1738G>T ENSP00000513538.1:p.Gly580Ter
XM_005264584.3:c.5041G>T XP_005264641.1:p.Gly1681Ter
XM_005264584.4:c.5041G>T XP_005264641.1:p.Gly1681Ter
XM_005264585.3:c.5038G>T XP_005264642.1:p.Gly1680Ter
XM_005264585.5:c.5038G>T XP_005264642.1:p.Gly1680Ter
XR_001738969.1:n.5199G>T