Canonical Allele Identifier: CA412656438
Community Standard Title: NM_004006.3(DMD):c.8224C>T (p.Gln2742Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31507447G>A , CM000685.2:g.31507447G>A GRCh38
NC_000023.10:g.31525564G>A , CM000685.1:g.31525564G>A GRCh37
NC_000023.9:g.31435485G>A NCBI36
NG_012232.1:g.1837163C>T , LRG_199:g.1837163C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8224C>T MANE Select NP_003997.2:p.Gln2742Ter
ENST00000357033.9:c.8224C>T MANE Select ENSP00000354923.3:p.Gln2742Ter
NM_000109.3:c.8200C>T NP_000100.2:p.Gln2734Ter
NM_000109.4:c.8200C>T NP_000100.3:p.Gln2734Ter
NM_004006.2:c.8224C>T , LRG_199t1:c.8224C>T NP_003997.1:p.Gln2742Ter
NM_004009.3:c.8212C>T NP_004000.1:p.Gln2738Ter
NM_004010.3:c.7855C>T NP_004001.1:p.Gln2619Ter
NM_004011.3:c.4201C>T NP_004002.2:p.Gln1401Ter
NM_004011.4:c.4201C>T NP_004002.3:p.Gln1401Ter
NM_004012.3:c.4192C>T NP_004003.1:p.Gln1398Ter
NM_004012.4:c.4192C>T NP_004003.2:p.Gln1398Ter
NM_004013.2:c.844C>T NP_004004.1:p.Gln282Ter
NM_004013.3:c.844C>T NP_004004.2:p.Gln282Ter
NM_004014.2:c.37C>T NP_004005.1:p.Gln13Ter
NM_004014.3:c.37C>T NP_004005.2:p.Gln13Ter
NM_004020.3:c.844C>T NP_004011.2:p.Gln282Ter
NM_004020.4:c.844C>T NP_004011.3:p.Gln282Ter
NM_004021.2:c.844C>T NP_004012.1:p.Gln282Ter
NM_004021.3:c.844C>T NP_004012.2:p.Gln282Ter
NM_004022.2:c.844C>T NP_004013.1:p.Gln282Ter
NM_004022.3:c.844C>T NP_004013.2:p.Gln282Ter
NM_004023.2:c.844C>T NP_004014.1:p.Gln282Ter
NM_004023.3:c.844C>T NP_004014.2:p.Gln282Ter
ENST00000343523.6:c.37C>T ENSP00000340057.3:p.Gln13Ter
ENST00000343523.7:c.79C>T ENSP00000340057.4:p.Gln27Ter
ENST00000357033.8:c.8224C>T ENSP00000354923.3:p.Gln2742Ter
ENST00000358062.6:c.1312C>T ENSP00000350765.2:p.Gln438Ter
ENST00000358062.7:c.3070C>T ENSP00000350765.3:p.Gln1024Ter
ENST00000359836.5:c.844C>T ENSP00000352894.1:p.Gln282Ter
ENST00000378677.6:c.8212C>T ENSP00000367948.2:p.Gln2738Ter
ENST00000378707.7:c.844C>T ENSP00000367979.3:p.Gln282Ter
ENST00000445312.1:n.281C>T
ENST00000474231.5:c.844C>T ENSP00000417123.1:p.Gln282Ter
ENST00000541735.5:c.844C>T ENSP00000444119.1:p.Gln282Ter
ENST00000619831.4:c.8209C>T ENSP00000479270.1:p.Gln2737Ter
ENST00000619831.5:c.4192C>T ENSP00000479270.2:p.Gln1398Ter
ENST00000620040.4:c.8221C>T ENSP00000478150.1:p.Gln2741Ter
ENST00000620040.5:c.844C>T ENSP00000478150.2:p.Gln282Ter
ENST00000680961.1:c.844C>T ENSP00000506386.1:p.Gln282Ter
ENST00000681646.1:n.1885C>T
ENST00000682238.1:c.844C>T ENSP00000508124.1:p.Gln282Ter
ENST00000683450.1:n.1689C>T
ENST00000683957.1:n.1716C>T
ENST00000684130.1:c.844C>T ENSP00000508037.1:p.Gln282Ter
XM_006724468.2:c.8224C>T XP_006724531.1:p.Gln2742Ter
XM_006724469.2:c.8200C>T XP_006724532.1:p.Gln2734Ter
XM_006724469.3:c.8200C>T XP_006724532.1:p.Gln2734Ter
XM_006724470.2:c.8224C>T XP_006724533.1:p.Gln2742Ter
XM_006724470.3:c.8224C>T XP_006724533.1:p.Gln2742Ter
XM_006724471.2:c.8224C>T XP_006724534.1:p.Gln2742Ter
XM_006724472.2:c.8095C>T XP_006724535.1:p.Gln2699Ter
XM_006724473.2:c.8086C>T XP_006724536.1:p.Gln2696Ter
XM_006724474.2:c.8224C>T XP_006724537.1:p.Gln2742Ter
XM_006724474.3:c.8224C>T XP_006724537.1:p.Gln2742Ter
XM_006724475.2:c.8224C>T XP_006724538.1:p.Gln2742Ter
XM_011545467.1:c.8101C>T XP_011543769.1:p.Gln2701Ter
XM_011545468.1:c.8224C>T XP_011543770.1:p.Gln2742Ter
XM_011545468.2:c.8224C>T XP_011543770.1:p.Gln2742Ter
XM_017029328.1:c.8224C>T XP_016884817.1:p.Gln2742Ter
XM_017029331.1:c.2398C>T XP_016884820.1:p.Gln800Ter