Canonical Allele Identifier: CA412656723
Community Standard Title: NM_004006.3(DMD):c.7792C>T (p.Gln2598Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31679455G>A , CM000685.2:g.31679455G>A GRCh38
NC_000023.10:g.31697572G>A , CM000685.1:g.31697572G>A GRCh37
NC_000023.9:g.31607493G>A NCBI36
NG_012232.1:g.1665155C>T , LRG_199:g.1665155C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.7792C>T MANE Select NP_003997.2:p.Gln2598Ter
ENST00000357033.9:c.7792C>T MANE Select ENSP00000354923.3:p.Gln2598Ter
NM_000109.3:c.7768C>T NP_000100.2:p.Gln2590Ter
NM_000109.4:c.7768C>T NP_000100.3:p.Gln2590Ter
NM_004006.2:c.7792C>T , LRG_199t1:c.7792C>T NP_003997.1:p.Gln2598Ter
NM_004009.3:c.7780C>T NP_004000.1:p.Gln2594Ter
NM_004010.3:c.7423C>T NP_004001.1:p.Gln2475Ter
NM_004011.3:c.3769C>T NP_004002.2:p.Gln1257Ter
NM_004011.4:c.3769C>T NP_004002.3:p.Gln1257Ter
NM_004012.3:c.3760C>T NP_004003.1:p.Gln1254Ter
NM_004012.4:c.3760C>T NP_004003.2:p.Gln1254Ter
NM_004013.2:c.412C>T NP_004004.1:p.Gln138Ter
NM_004013.3:c.412C>T NP_004004.2:p.Gln138Ter
NM_004020.3:c.412C>T NP_004011.2:p.Gln138Ter
NM_004020.4:c.412C>T NP_004011.3:p.Gln138Ter
NM_004021.2:c.412C>T NP_004012.1:p.Gln138Ter
NM_004021.3:c.412C>T NP_004012.2:p.Gln138Ter
NM_004022.2:c.412C>T NP_004013.1:p.Gln138Ter
NM_004022.3:c.412C>T NP_004013.2:p.Gln138Ter
NM_004023.2:c.412C>T NP_004014.1:p.Gln138Ter
NM_004023.3:c.412C>T NP_004014.2:p.Gln138Ter
ENST00000357033.8:c.7792C>T ENSP00000354923.3:p.Gln2598Ter
ENST00000358062.6:c.880C>T ENSP00000350765.2:p.Gln294Ter
ENST00000358062.7:c.2638C>T ENSP00000350765.3:p.Gln880Ter
ENST00000359836.5:c.412C>T ENSP00000352894.1:p.Gln138Ter
ENST00000378677.6:c.7780C>T ENSP00000367948.2:p.Gln2594Ter
ENST00000378707.7:c.412C>T ENSP00000367979.3:p.Gln138Ter
ENST00000474231.5:c.412C>T ENSP00000417123.1:p.Gln138Ter
ENST00000541735.5:c.412C>T ENSP00000444119.1:p.Gln138Ter
ENST00000619831.4:c.7777C>T ENSP00000479270.1:p.Gln2593Ter
ENST00000619831.5:c.3760C>T ENSP00000479270.2:p.Gln1254Ter
ENST00000620040.4:c.7789C>T ENSP00000478150.1:p.Gln2597Ter
ENST00000620040.5:c.412C>T ENSP00000478150.2:p.Gln138Ter
ENST00000680961.1:c.412C>T ENSP00000506386.1:p.Gln138Ter
ENST00000681646.1:n.1453C>T
ENST00000681839.1:c.781C>T ENSP00000505228.1:p.Gln261Ter
ENST00000682238.1:c.412C>T ENSP00000508124.1:p.Gln138Ter
ENST00000683117.1:n.1453C>T
ENST00000683450.1:n.1257C>T
ENST00000683851.1:n.1453C>T
ENST00000683957.1:n.1284C>T
ENST00000684130.1:c.412C>T ENSP00000508037.1:p.Gln138Ter
XM_006724468.2:c.7792C>T XP_006724531.1:p.Gln2598Ter
XM_006724469.2:c.7768C>T XP_006724532.1:p.Gln2590Ter
XM_006724469.3:c.7768C>T XP_006724532.1:p.Gln2590Ter
XM_006724470.2:c.7792C>T XP_006724533.1:p.Gln2598Ter
XM_006724470.3:c.7792C>T XP_006724533.1:p.Gln2598Ter
XM_006724471.2:c.7792C>T XP_006724534.1:p.Gln2598Ter
XM_006724472.2:c.7663C>T XP_006724535.1:p.Gln2555Ter
XM_006724473.2:c.7654C>T XP_006724536.1:p.Gln2552Ter
XM_006724474.2:c.7792C>T XP_006724537.1:p.Gln2598Ter
XM_006724474.3:c.7792C>T XP_006724537.1:p.Gln2598Ter
XM_006724475.2:c.7792C>T XP_006724538.1:p.Gln2598Ter
XM_011545467.1:c.7669C>T XP_011543769.1:p.Gln2557Ter
XM_011545468.1:c.7792C>T XP_011543770.1:p.Gln2598Ter
XM_011545468.2:c.7792C>T XP_011543770.1:p.Gln2598Ter
XM_017029328.1:c.7792C>T XP_016884817.1:p.Gln2598Ter
XM_017029331.1:c.1966C>T XP_016884820.1:p.Gln656Ter