Canonical Allele Identifier: CA412656314
Community Standard Title: NM_004006.3(DMD):c.8278C>T (p.Gln2760Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31507393G>A , CM000685.2:g.31507393G>A GRCh38
NC_000023.10:g.31525510G>A , CM000685.1:g.31525510G>A GRCh37
NC_000023.9:g.31435431G>A NCBI36
NG_012232.1:g.1837217C>T , LRG_199:g.1837217C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8278C>T MANE Select NP_003997.2:p.Gln2760Ter
ENST00000357033.9:c.8278C>T MANE Select ENSP00000354923.3:p.Gln2760Ter
NM_000109.3:c.8254C>T NP_000100.2:p.Gln2752Ter
NM_000109.4:c.8254C>T NP_000100.3:p.Gln2752Ter
NM_004006.2:c.8278C>T , LRG_199t1:c.8278C>T NP_003997.1:p.Gln2760Ter
NM_004009.3:c.8266C>T NP_004000.1:p.Gln2756Ter
NM_004010.3:c.7909C>T NP_004001.1:p.Gln2637Ter
NM_004011.3:c.4255C>T NP_004002.2:p.Gln1419Ter
NM_004011.4:c.4255C>T NP_004002.3:p.Gln1419Ter
NM_004012.3:c.4246C>T NP_004003.1:p.Gln1416Ter
NM_004012.4:c.4246C>T NP_004003.2:p.Gln1416Ter
NM_004013.2:c.898C>T NP_004004.1:p.Gln300Ter
NM_004013.3:c.898C>T NP_004004.2:p.Gln300Ter
NM_004014.2:c.91C>T NP_004005.1:p.Gln31Ter
NM_004014.3:c.91C>T NP_004005.2:p.Gln31Ter
NM_004020.3:c.898C>T NP_004011.2:p.Gln300Ter
NM_004020.4:c.898C>T NP_004011.3:p.Gln300Ter
NM_004021.2:c.898C>T NP_004012.1:p.Gln300Ter
NM_004021.3:c.898C>T NP_004012.2:p.Gln300Ter
NM_004022.2:c.898C>T NP_004013.1:p.Gln300Ter
NM_004022.3:c.898C>T NP_004013.2:p.Gln300Ter
NM_004023.2:c.898C>T NP_004014.1:p.Gln300Ter
NM_004023.3:c.898C>T NP_004014.2:p.Gln300Ter
ENST00000343523.6:c.91C>T ENSP00000340057.3:p.Gln31Ter
ENST00000343523.7:c.133C>T ENSP00000340057.4:p.Gln45Ter
ENST00000357033.8:c.8278C>T ENSP00000354923.3:p.Gln2760Ter
ENST00000358062.6:c.1366C>T ENSP00000350765.2:p.Gln456Ter
ENST00000358062.7:c.3124C>T ENSP00000350765.3:p.Gln1042Ter
ENST00000359836.5:c.898C>T ENSP00000352894.1:p.Gln300Ter
ENST00000378677.6:c.8266C>T ENSP00000367948.2:p.Gln2756Ter
ENST00000378707.7:c.898C>T ENSP00000367979.3:p.Gln300Ter
ENST00000445312.1:n.335C>T
ENST00000474231.5:c.898C>T ENSP00000417123.1:p.Gln300Ter
ENST00000541735.5:c.898C>T ENSP00000444119.1:p.Gln300Ter
ENST00000619831.4:c.8263C>T ENSP00000479270.1:p.Gln2755Ter
ENST00000619831.5:c.4246C>T ENSP00000479270.2:p.Gln1416Ter
ENST00000620040.4:c.8275C>T ENSP00000478150.1:p.Gln2759Ter
ENST00000620040.5:c.898C>T ENSP00000478150.2:p.Gln300Ter
ENST00000680961.1:c.898C>T ENSP00000506386.1:p.Gln300Ter
ENST00000681646.1:n.1939C>T
ENST00000682238.1:c.898C>T ENSP00000508124.1:p.Gln300Ter
ENST00000683450.1:n.1743C>T
ENST00000683957.1:n.1770C>T
ENST00000684130.1:c.898C>T ENSP00000508037.1:p.Gln300Ter
XM_006724468.2:c.8278C>T XP_006724531.1:p.Gln2760Ter
XM_006724469.2:c.8254C>T XP_006724532.1:p.Gln2752Ter
XM_006724469.3:c.8254C>T XP_006724532.1:p.Gln2752Ter
XM_006724470.2:c.8278C>T XP_006724533.1:p.Gln2760Ter
XM_006724470.3:c.8278C>T XP_006724533.1:p.Gln2760Ter
XM_006724471.2:c.8278C>T XP_006724534.1:p.Gln2760Ter
XM_006724472.2:c.8149C>T XP_006724535.1:p.Gln2717Ter
XM_006724473.2:c.8140C>T XP_006724536.1:p.Gln2714Ter
XM_006724474.2:c.8278C>T XP_006724537.1:p.Gln2760Ter
XM_006724474.3:c.8278C>T XP_006724537.1:p.Gln2760Ter
XM_006724475.2:c.8278C>T XP_006724538.1:p.Gln2760Ter
XM_011545467.1:c.8155C>T XP_011543769.1:p.Gln2719Ter
XM_011545468.1:c.8278C>T XP_011543770.1:p.Gln2760Ter
XM_011545468.2:c.8278C>T XP_011543770.1:p.Gln2760Ter
XM_017029328.1:c.8278C>T XP_016884817.1:p.Gln2760Ter
XM_017029331.1:c.2452C>T XP_016884820.1:p.Gln818Ter