Canonical Allele Identifier: CA412655720
Community Standard Title: NM_004006.3(DMD):c.8023A>T (p.Lys2675Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31657994T>A , CM000685.2:g.31657994T>A GRCh38
NC_000023.10:g.31676111T>A , CM000685.1:g.31676111T>A GRCh37
NC_000023.9:g.31586032T>A NCBI36
NG_012232.1:g.1686616A>T , LRG_199:g.1686616A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8023A>T MANE Select NP_003997.2:p.Lys2675Ter
ENST00000357033.9:c.8023A>T MANE Select ENSP00000354923.3:p.Lys2675Ter
NM_000109.3:c.7999A>T NP_000100.2:p.Lys2667Ter
NM_000109.4:c.7999A>T NP_000100.3:p.Lys2667Ter
NM_004006.2:c.8023A>T , LRG_199t1:c.8023A>T NP_003997.1:p.Lys2675Ter
NM_004009.3:c.8011A>T NP_004000.1:p.Lys2671Ter
NM_004010.3:c.7654A>T NP_004001.1:p.Lys2552Ter
NM_004011.3:c.4000A>T NP_004002.2:p.Lys1334Ter
NM_004011.4:c.4000A>T NP_004002.3:p.Lys1334Ter
NM_004012.3:c.3991A>T NP_004003.1:p.Lys1331Ter
NM_004012.4:c.3991A>T NP_004003.2:p.Lys1331Ter
NM_004013.2:c.643A>T NP_004004.1:p.Lys215Ter
NM_004013.3:c.643A>T NP_004004.2:p.Lys215Ter
NM_004020.3:c.643A>T NP_004011.2:p.Lys215Ter
NM_004020.4:c.643A>T NP_004011.3:p.Lys215Ter
NM_004021.2:c.643A>T NP_004012.1:p.Lys215Ter
NM_004021.3:c.643A>T NP_004012.2:p.Lys215Ter
NM_004022.2:c.643A>T NP_004013.1:p.Lys215Ter
NM_004022.3:c.643A>T NP_004013.2:p.Lys215Ter
NM_004023.2:c.643A>T NP_004014.1:p.Lys215Ter
NM_004023.3:c.643A>T NP_004014.2:p.Lys215Ter
ENST00000357033.8:c.8023A>T ENSP00000354923.3:p.Lys2675Ter
ENST00000358062.6:c.1111A>T ENSP00000350765.2:p.Lys371Ter
ENST00000358062.7:c.2869A>T ENSP00000350765.3:p.Lys957Ter
ENST00000359836.5:c.643A>T ENSP00000352894.1:p.Lys215Ter
ENST00000378677.6:c.8011A>T ENSP00000367948.2:p.Lys2671Ter
ENST00000378707.7:c.643A>T ENSP00000367979.3:p.Lys215Ter
ENST00000474231.5:c.643A>T ENSP00000417123.1:p.Lys215Ter
ENST00000541735.5:c.643A>T ENSP00000444119.1:p.Lys215Ter
ENST00000619831.4:c.8008A>T ENSP00000479270.1:p.Lys2670Ter
ENST00000619831.5:c.3991A>T ENSP00000479270.2:p.Lys1331Ter
ENST00000620040.4:c.8020A>T ENSP00000478150.1:p.Lys2674Ter
ENST00000620040.5:c.643A>T ENSP00000478150.2:p.Lys215Ter
ENST00000680961.1:c.643A>T ENSP00000506386.1:p.Lys215Ter
ENST00000681646.1:n.1684A>T
ENST00000682238.1:c.643A>T ENSP00000508124.1:p.Lys215Ter
ENST00000683450.1:n.1488A>T
ENST00000683851.1:n.1684A>T
ENST00000683957.1:n.1515A>T
ENST00000684130.1:c.643A>T ENSP00000508037.1:p.Lys215Ter
XM_006724468.2:c.8023A>T XP_006724531.1:p.Lys2675Ter
XM_006724469.2:c.7999A>T XP_006724532.1:p.Lys2667Ter
XM_006724469.3:c.7999A>T XP_006724532.1:p.Lys2667Ter
XM_006724470.2:c.8023A>T XP_006724533.1:p.Lys2675Ter
XM_006724470.3:c.8023A>T XP_006724533.1:p.Lys2675Ter
XM_006724471.2:c.8023A>T XP_006724534.1:p.Lys2675Ter
XM_006724472.2:c.7894A>T XP_006724535.1:p.Lys2632Ter
XM_006724473.2:c.7885A>T XP_006724536.1:p.Lys2629Ter
XM_006724474.2:c.8023A>T XP_006724537.1:p.Lys2675Ter
XM_006724474.3:c.8023A>T XP_006724537.1:p.Lys2675Ter
XM_006724475.2:c.8023A>T XP_006724538.1:p.Lys2675Ter
XM_011545467.1:c.7900A>T XP_011543769.1:p.Lys2634Ter
XM_011545468.1:c.8023A>T XP_011543770.1:p.Lys2675Ter
XM_011545468.2:c.8023A>T XP_011543770.1:p.Lys2675Ter
XM_017029328.1:c.8023A>T XP_016884817.1:p.Lys2675Ter
XM_017029331.1:c.2197A>T XP_016884820.1:p.Lys733Ter