Canonical Allele Identifier: CA412654445
Community Standard Title: NM_004006.3(DMD):c.8659G>T (p.Glu2887Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31478992C>A , CM000685.2:g.31478992C>A GRCh38
NC_000023.10:g.31497109C>A , CM000685.1:g.31497109C>A GRCh37
NC_000023.9:g.31407030C>A NCBI36
NG_012232.1:g.1865618G>T , LRG_199:g.1865618G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8659G>T MANE Select NP_003997.2:p.Glu2887Ter
ENST00000357033.9:c.8659G>T MANE Select ENSP00000354923.3:p.Glu2887Ter
NM_000109.3:c.8635G>T NP_000100.2:p.Glu2879Ter
NM_000109.4:c.8635G>T NP_000100.3:p.Glu2879Ter
NM_004006.2:c.8659G>T , LRG_199t1:c.8659G>T NP_003997.1:p.Glu2887Ter
NM_004009.3:c.8647G>T NP_004000.1:p.Glu2883Ter
NM_004010.3:c.8290G>T NP_004001.1:p.Glu2764Ter
NM_004011.3:c.4636G>T NP_004002.2:p.Glu1546Ter
NM_004011.4:c.4636G>T NP_004002.3:p.Glu1546Ter
NM_004012.3:c.4627G>T NP_004003.1:p.Glu1543Ter
NM_004012.4:c.4627G>T NP_004003.2:p.Glu1543Ter
NM_004013.2:c.1279G>T NP_004004.1:p.Glu427Ter
NM_004013.3:c.1279G>T NP_004004.2:p.Glu427Ter
NM_004014.2:c.472G>T NP_004005.1:p.Glu158Ter
NM_004014.3:c.472G>T NP_004005.2:p.Glu158Ter
NM_004020.3:c.1279G>T NP_004011.2:p.Glu427Ter
NM_004020.4:c.1279G>T NP_004011.3:p.Glu427Ter
NM_004021.2:c.1279G>T NP_004012.1:p.Glu427Ter
NM_004021.3:c.1279G>T NP_004012.2:p.Glu427Ter
NM_004022.2:c.1279G>T NP_004013.1:p.Glu427Ter
NM_004022.3:c.1279G>T NP_004013.2:p.Glu427Ter
NM_004023.2:c.1279G>T NP_004014.1:p.Glu427Ter
NM_004023.3:c.1279G>T NP_004014.2:p.Glu427Ter
ENST00000343523.6:c.472G>T ENSP00000340057.3:p.Glu158Ter
ENST00000343523.7:c.514G>T ENSP00000340057.4:p.Glu172Ter
ENST00000357033.8:c.8659G>T ENSP00000354923.3:p.Glu2887Ter
ENST00000358062.6:c.1747G>T ENSP00000350765.2:p.Glu583Ter
ENST00000358062.7:c.3505G>T ENSP00000350765.3:p.Glu1169Ter
ENST00000359836.5:c.1279G>T ENSP00000352894.1:p.Glu427Ter
ENST00000378677.6:c.8647G>T ENSP00000367948.2:p.Glu2883Ter
ENST00000378707.7:c.1279G>T ENSP00000367979.3:p.Glu427Ter
ENST00000445312.1:n.716G>T
ENST00000474231.5:c.1279G>T ENSP00000417123.1:p.Glu427Ter
ENST00000541735.5:c.1279G>T ENSP00000444119.1:p.Glu427Ter
ENST00000619831.4:c.8644G>T ENSP00000479270.1:p.Glu2882Ter
ENST00000619831.5:c.4627G>T ENSP00000479270.2:p.Glu1543Ter
ENST00000620040.4:c.8656G>T ENSP00000478150.1:p.Glu2886Ter
ENST00000620040.5:c.1279G>T ENSP00000478150.2:p.Glu427Ter
ENST00000680961.1:c.1279G>T ENSP00000506386.1:p.Glu427Ter
ENST00000681646.1:n.2320G>T
ENST00000682238.1:c.1279G>T ENSP00000508124.1:p.Glu427Ter
ENST00000683450.1:n.2124G>T
ENST00000683957.1:n.2151G>T
ENST00000684130.1:c.1279G>T ENSP00000508037.1:p.Glu427Ter
XM_006724468.2:c.8659G>T XP_006724531.1:p.Glu2887Ter
XM_006724469.2:c.8635G>T XP_006724532.1:p.Glu2879Ter
XM_006724469.3:c.8635G>T XP_006724532.1:p.Glu2879Ter
XM_006724470.2:c.8659G>T XP_006724533.1:p.Glu2887Ter
XM_006724470.3:c.8659G>T XP_006724533.1:p.Glu2887Ter
XM_006724471.2:c.8659G>T XP_006724534.1:p.Glu2887Ter
XM_006724472.2:c.8530G>T XP_006724535.1:p.Glu2844Ter
XM_006724473.2:c.8521G>T XP_006724536.1:p.Glu2841Ter
XM_006724474.2:c.8659G>T XP_006724537.1:p.Glu2887Ter
XM_006724474.3:c.8659G>T XP_006724537.1:p.Glu2887Ter
XM_006724475.2:c.8659G>T XP_006724538.1:p.Glu2887Ter
XM_011545467.1:c.8536G>T XP_011543769.1:p.Glu2846Ter
XM_011545468.1:c.8659G>T XP_011543770.1:p.Glu2887Ter
XM_011545468.2:c.8659G>T XP_011543770.1:p.Glu2887Ter
XM_017029328.1:c.8659G>T XP_016884817.1:p.Glu2887Ter
XM_017029331.1:c.2833G>T XP_016884820.1:p.Glu945Ter