Canonical Allele Identifier: CA412657046
Community Standard Title: NM_004006.3(DMD):c.8215C>T (p.Gln2739Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31627675G>A , CM000685.2:g.31627675G>A GRCh38
NC_000023.10:g.31645792G>A , CM000685.1:g.31645792G>A GRCh37
NC_000023.9:g.31555713G>A NCBI36
NG_012232.1:g.1716935C>T , LRG_199:g.1716935C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8215C>T MANE Select NP_003997.2:p.Gln2739Ter
ENST00000357033.9:c.8215C>T MANE Select ENSP00000354923.3:p.Gln2739Ter
NM_000109.3:c.8191C>T NP_000100.2:p.Gln2731Ter
NM_000109.4:c.8191C>T NP_000100.3:p.Gln2731Ter
NM_004006.2:c.8215C>T , LRG_199t1:c.8215C>T NP_003997.1:p.Gln2739Ter
NM_004009.3:c.8203C>T NP_004000.1:p.Gln2735Ter
NM_004010.3:c.7846C>T NP_004001.1:p.Gln2616Ter
NM_004011.3:c.4192C>T NP_004002.2:p.Gln1398Ter
NM_004011.4:c.4192C>T NP_004002.3:p.Gln1398Ter
NM_004012.3:c.4183C>T NP_004003.1:p.Gln1395Ter
NM_004012.4:c.4183C>T NP_004003.2:p.Gln1395Ter
NM_004013.2:c.835C>T NP_004004.1:p.Gln279Ter
NM_004013.3:c.835C>T NP_004004.2:p.Gln279Ter
NM_004020.3:c.835C>T NP_004011.2:p.Gln279Ter
NM_004020.4:c.835C>T NP_004011.3:p.Gln279Ter
NM_004021.2:c.835C>T NP_004012.1:p.Gln279Ter
NM_004021.3:c.835C>T NP_004012.2:p.Gln279Ter
NM_004022.2:c.835C>T NP_004013.1:p.Gln279Ter
NM_004022.3:c.835C>T NP_004013.2:p.Gln279Ter
NM_004023.2:c.835C>T NP_004014.1:p.Gln279Ter
NM_004023.3:c.835C>T NP_004014.2:p.Gln279Ter
ENST00000357033.8:c.8215C>T ENSP00000354923.3:p.Gln2739Ter
ENST00000358062.6:c.1303C>T ENSP00000350765.2:p.Gln435Ter
ENST00000358062.7:c.3061C>T ENSP00000350765.3:p.Gln1021Ter
ENST00000359836.5:c.835C>T ENSP00000352894.1:p.Gln279Ter
ENST00000378677.6:c.8203C>T ENSP00000367948.2:p.Gln2735Ter
ENST00000378707.7:c.835C>T ENSP00000367979.3:p.Gln279Ter
ENST00000474231.5:c.835C>T ENSP00000417123.1:p.Gln279Ter
ENST00000541735.5:c.835C>T ENSP00000444119.1:p.Gln279Ter
ENST00000619831.4:c.8200C>T ENSP00000479270.1:p.Gln2734Ter
ENST00000619831.5:c.4183C>T ENSP00000479270.2:p.Gln1395Ter
ENST00000620040.4:c.8212C>T ENSP00000478150.1:p.Gln2738Ter
ENST00000620040.5:c.835C>T ENSP00000478150.2:p.Gln279Ter
ENST00000680961.1:c.835C>T ENSP00000506386.1:p.Gln279Ter
ENST00000681646.1:n.1876C>T
ENST00000682238.1:c.835C>T ENSP00000508124.1:p.Gln279Ter
ENST00000683450.1:n.1680C>T
ENST00000683851.1:n.1876C>T
ENST00000683957.1:n.1707C>T
ENST00000684130.1:c.835C>T ENSP00000508037.1:p.Gln279Ter
XM_006724468.2:c.8215C>T XP_006724531.1:p.Gln2739Ter
XM_006724469.2:c.8191C>T XP_006724532.1:p.Gln2731Ter
XM_006724469.3:c.8191C>T XP_006724532.1:p.Gln2731Ter
XM_006724470.2:c.8215C>T XP_006724533.1:p.Gln2739Ter
XM_006724470.3:c.8215C>T XP_006724533.1:p.Gln2739Ter
XM_006724471.2:c.8215C>T XP_006724534.1:p.Gln2739Ter
XM_006724472.2:c.8086C>T XP_006724535.1:p.Gln2696Ter
XM_006724473.2:c.8077C>T XP_006724536.1:p.Gln2693Ter
XM_006724474.2:c.8215C>T XP_006724537.1:p.Gln2739Ter
XM_006724474.3:c.8215C>T XP_006724537.1:p.Gln2739Ter
XM_006724475.2:c.8215C>T XP_006724538.1:p.Gln2739Ter
XM_011545467.1:c.8092C>T XP_011543769.1:p.Gln2698Ter
XM_011545468.1:c.8215C>T XP_011543770.1:p.Gln2739Ter
XM_011545468.2:c.8215C>T XP_011543770.1:p.Gln2739Ter
XM_017029328.1:c.8215C>T XP_016884817.1:p.Gln2739Ter
XM_017029331.1:c.2389C>T XP_016884820.1:p.Gln797Ter