Canonical Allele Identifier: CA412654518
Community Standard Title: NM_004006.3(DMD):c.8626C>T (p.Gln2876Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31479025G>A , CM000685.2:g.31479025G>A GRCh38
NC_000023.10:g.31497142G>A , CM000685.1:g.31497142G>A GRCh37
NC_000023.9:g.31407063G>A NCBI36
NG_012232.1:g.1865585C>T , LRG_199:g.1865585C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8626C>T MANE Select NP_003997.2:p.Gln2876Ter
ENST00000357033.9:c.8626C>T MANE Select ENSP00000354923.3:p.Gln2876Ter
NM_000109.3:c.8602C>T NP_000100.2:p.Gln2868Ter
NM_000109.4:c.8602C>T NP_000100.3:p.Gln2868Ter
NM_004006.2:c.8626C>T , LRG_199t1:c.8626C>T NP_003997.1:p.Gln2876Ter
NM_004009.3:c.8614C>T NP_004000.1:p.Gln2872Ter
NM_004010.3:c.8257C>T NP_004001.1:p.Gln2753Ter
NM_004011.3:c.4603C>T NP_004002.2:p.Gln1535Ter
NM_004011.4:c.4603C>T NP_004002.3:p.Gln1535Ter
NM_004012.3:c.4594C>T NP_004003.1:p.Gln1532Ter
NM_004012.4:c.4594C>T NP_004003.2:p.Gln1532Ter
NM_004013.2:c.1246C>T NP_004004.1:p.Gln416Ter
NM_004013.3:c.1246C>T NP_004004.2:p.Gln416Ter
NM_004014.2:c.439C>T NP_004005.1:p.Gln147Ter
NM_004014.3:c.439C>T NP_004005.2:p.Gln147Ter
NM_004020.3:c.1246C>T NP_004011.2:p.Gln416Ter
NM_004020.4:c.1246C>T NP_004011.3:p.Gln416Ter
NM_004021.2:c.1246C>T NP_004012.1:p.Gln416Ter
NM_004021.3:c.1246C>T NP_004012.2:p.Gln416Ter
NM_004022.2:c.1246C>T NP_004013.1:p.Gln416Ter
NM_004022.3:c.1246C>T NP_004013.2:p.Gln416Ter
NM_004023.2:c.1246C>T NP_004014.1:p.Gln416Ter
NM_004023.3:c.1246C>T NP_004014.2:p.Gln416Ter
ENST00000343523.6:c.439C>T ENSP00000340057.3:p.Gln147Ter
ENST00000343523.7:c.481C>T ENSP00000340057.4:p.Gln161Ter
ENST00000357033.8:c.8626C>T ENSP00000354923.3:p.Gln2876Ter
ENST00000358062.6:c.1714C>T ENSP00000350765.2:p.Gln572Ter
ENST00000358062.7:c.3472C>T ENSP00000350765.3:p.Gln1158Ter
ENST00000359836.5:c.1246C>T ENSP00000352894.1:p.Gln416Ter
ENST00000378677.6:c.8614C>T ENSP00000367948.2:p.Gln2872Ter
ENST00000378707.7:c.1246C>T ENSP00000367979.3:p.Gln416Ter
ENST00000445312.1:n.683C>T
ENST00000474231.5:c.1246C>T ENSP00000417123.1:p.Gln416Ter
ENST00000541735.5:c.1246C>T ENSP00000444119.1:p.Gln416Ter
ENST00000619831.4:c.8611C>T ENSP00000479270.1:p.Gln2871Ter
ENST00000619831.5:c.4594C>T ENSP00000479270.2:p.Gln1532Ter
ENST00000620040.4:c.8623C>T ENSP00000478150.1:p.Gln2875Ter
ENST00000620040.5:c.1246C>T ENSP00000478150.2:p.Gln416Ter
ENST00000680961.1:c.1246C>T ENSP00000506386.1:p.Gln416Ter
ENST00000681646.1:n.2287C>T
ENST00000682238.1:c.1246C>T ENSP00000508124.1:p.Gln416Ter
ENST00000683450.1:n.2091C>T
ENST00000683957.1:n.2118C>T
ENST00000684130.1:c.1246C>T ENSP00000508037.1:p.Gln416Ter
XM_006724468.2:c.8626C>T XP_006724531.1:p.Gln2876Ter
XM_006724469.2:c.8602C>T XP_006724532.1:p.Gln2868Ter
XM_006724469.3:c.8602C>T XP_006724532.1:p.Gln2868Ter
XM_006724470.2:c.8626C>T XP_006724533.1:p.Gln2876Ter
XM_006724470.3:c.8626C>T XP_006724533.1:p.Gln2876Ter
XM_006724471.2:c.8626C>T XP_006724534.1:p.Gln2876Ter
XM_006724472.2:c.8497C>T XP_006724535.1:p.Gln2833Ter
XM_006724473.2:c.8488C>T XP_006724536.1:p.Gln2830Ter
XM_006724474.2:c.8626C>T XP_006724537.1:p.Gln2876Ter
XM_006724474.3:c.8626C>T XP_006724537.1:p.Gln2876Ter
XM_006724475.2:c.8626C>T XP_006724538.1:p.Gln2876Ter
XM_011545467.1:c.8503C>T XP_011543769.1:p.Gln2835Ter
XM_011545468.1:c.8626C>T XP_011543770.1:p.Gln2876Ter
XM_011545468.2:c.8626C>T XP_011543770.1:p.Gln2876Ter
XM_017029328.1:c.8626C>T XP_016884817.1:p.Gln2876Ter
XM_017029331.1:c.2800C>T XP_016884820.1:p.Gln934Ter