Canonical Allele Identifier: CA412656204
Community Standard Title: NM_004006.3(DMD):c.8329A>T (p.Arg2777Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31507342T>A , CM000685.2:g.31507342T>A GRCh38
NC_000023.10:g.31525459T>A , CM000685.1:g.31525459T>A GRCh37
NC_000023.9:g.31435380T>A NCBI36
NG_012232.1:g.1837268A>T , LRG_199:g.1837268A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8329A>T MANE Select NP_003997.2:p.Arg2777Ter
ENST00000357033.9:c.8329A>T MANE Select ENSP00000354923.3:p.Arg2777Ter
NM_000109.3:c.8305A>T NP_000100.2:p.Arg2769Ter
NM_000109.4:c.8305A>T NP_000100.3:p.Arg2769Ter
NM_004006.2:c.8329A>T , LRG_199t1:c.8329A>T NP_003997.1:p.Arg2777Ter
NM_004009.3:c.8317A>T NP_004000.1:p.Arg2773Ter
NM_004010.3:c.7960A>T NP_004001.1:p.Arg2654Ter
NM_004011.3:c.4306A>T NP_004002.2:p.Arg1436Ter
NM_004011.4:c.4306A>T NP_004002.3:p.Arg1436Ter
NM_004012.3:c.4297A>T NP_004003.1:p.Arg1433Ter
NM_004012.4:c.4297A>T NP_004003.2:p.Arg1433Ter
NM_004013.2:c.949A>T NP_004004.1:p.Arg317Ter
NM_004013.3:c.949A>T NP_004004.2:p.Arg317Ter
NM_004014.2:c.142A>T NP_004005.1:p.Arg48Ter
NM_004014.3:c.142A>T NP_004005.2:p.Arg48Ter
NM_004020.3:c.949A>T NP_004011.2:p.Arg317Ter
NM_004020.4:c.949A>T NP_004011.3:p.Arg317Ter
NM_004021.2:c.949A>T NP_004012.1:p.Arg317Ter
NM_004021.3:c.949A>T NP_004012.2:p.Arg317Ter
NM_004022.2:c.949A>T NP_004013.1:p.Arg317Ter
NM_004022.3:c.949A>T NP_004013.2:p.Arg317Ter
NM_004023.2:c.949A>T NP_004014.1:p.Arg317Ter
NM_004023.3:c.949A>T NP_004014.2:p.Arg317Ter
ENST00000343523.6:c.142A>T ENSP00000340057.3:p.Arg48Ter
ENST00000343523.7:c.184A>T ENSP00000340057.4:p.Arg62Ter
ENST00000357033.8:c.8329A>T ENSP00000354923.3:p.Arg2777Ter
ENST00000358062.6:c.1417A>T ENSP00000350765.2:p.Arg473Ter
ENST00000358062.7:c.3175A>T ENSP00000350765.3:p.Arg1059Ter
ENST00000359836.5:c.949A>T ENSP00000352894.1:p.Arg317Ter
ENST00000378677.6:c.8317A>T ENSP00000367948.2:p.Arg2773Ter
ENST00000378707.7:c.949A>T ENSP00000367979.3:p.Arg317Ter
ENST00000445312.1:n.386A>T
ENST00000474231.5:c.949A>T ENSP00000417123.1:p.Arg317Ter
ENST00000541735.5:c.949A>T ENSP00000444119.1:p.Arg317Ter
ENST00000619831.4:c.8314A>T ENSP00000479270.1:p.Arg2772Ter
ENST00000619831.5:c.4297A>T ENSP00000479270.2:p.Arg1433Ter
ENST00000620040.4:c.8326A>T ENSP00000478150.1:p.Arg2776Ter
ENST00000620040.5:c.949A>T ENSP00000478150.2:p.Arg317Ter
ENST00000680961.1:c.949A>T ENSP00000506386.1:p.Arg317Ter
ENST00000681646.1:n.1990A>T
ENST00000682238.1:c.949A>T ENSP00000508124.1:p.Arg317Ter
ENST00000683450.1:n.1794A>T
ENST00000683957.1:n.1821A>T
ENST00000684130.1:c.949A>T ENSP00000508037.1:p.Arg317Ter
XM_006724468.2:c.8329A>T XP_006724531.1:p.Arg2777Ter
XM_006724469.2:c.8305A>T XP_006724532.1:p.Arg2769Ter
XM_006724469.3:c.8305A>T XP_006724532.1:p.Arg2769Ter
XM_006724470.2:c.8329A>T XP_006724533.1:p.Arg2777Ter
XM_006724470.3:c.8329A>T XP_006724533.1:p.Arg2777Ter
XM_006724471.2:c.8329A>T XP_006724534.1:p.Arg2777Ter
XM_006724472.2:c.8200A>T XP_006724535.1:p.Arg2734Ter
XM_006724473.2:c.8191A>T XP_006724536.1:p.Arg2731Ter
XM_006724474.2:c.8329A>T XP_006724537.1:p.Arg2777Ter
XM_006724474.3:c.8329A>T XP_006724537.1:p.Arg2777Ter
XM_006724475.2:c.8329A>T XP_006724538.1:p.Arg2777Ter
XM_011545467.1:c.8206A>T XP_011543769.1:p.Arg2736Ter
XM_011545468.1:c.8329A>T XP_011543770.1:p.Arg2777Ter
XM_011545468.2:c.8329A>T XP_011543770.1:p.Arg2777Ter
XM_017029328.1:c.8329A>T XP_016884817.1:p.Arg2777Ter
XM_017029331.1:c.2503A>T XP_016884820.1:p.Arg835Ter