Canonical Allele Identifier: CA412655474
Community Standard Title: NM_004006.3(DMD):c.8491C>T (p.Gln2831Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31496844G>A , CM000685.2:g.31496844G>A GRCh38
NC_000023.10:g.31514961G>A , CM000685.1:g.31514961G>A GRCh37
NC_000023.9:g.31424882G>A NCBI36
NG_012232.1:g.1847766C>T , LRG_199:g.1847766C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8491C>T MANE Select NP_003997.2:p.Gln2831Ter
ENST00000357033.9:c.8491C>T MANE Select ENSP00000354923.3:p.Gln2831Ter
NM_000109.3:c.8467C>T NP_000100.2:p.Gln2823Ter
NM_000109.4:c.8467C>T NP_000100.3:p.Gln2823Ter
NM_004006.2:c.8491C>T , LRG_199t1:c.8491C>T NP_003997.1:p.Gln2831Ter
NM_004009.3:c.8479C>T NP_004000.1:p.Gln2827Ter
NM_004010.3:c.8122C>T NP_004001.1:p.Gln2708Ter
NM_004011.3:c.4468C>T NP_004002.2:p.Gln1490Ter
NM_004011.4:c.4468C>T NP_004002.3:p.Gln1490Ter
NM_004012.3:c.4459C>T NP_004003.1:p.Gln1487Ter
NM_004012.4:c.4459C>T NP_004003.2:p.Gln1487Ter
NM_004013.2:c.1111C>T NP_004004.1:p.Gln371Ter
NM_004013.3:c.1111C>T NP_004004.2:p.Gln371Ter
NM_004014.2:c.304C>T NP_004005.1:p.Gln102Ter
NM_004014.3:c.304C>T NP_004005.2:p.Gln102Ter
NM_004020.3:c.1111C>T NP_004011.2:p.Gln371Ter
NM_004020.4:c.1111C>T NP_004011.3:p.Gln371Ter
NM_004021.2:c.1111C>T NP_004012.1:p.Gln371Ter
NM_004021.3:c.1111C>T NP_004012.2:p.Gln371Ter
NM_004022.2:c.1111C>T NP_004013.1:p.Gln371Ter
NM_004022.3:c.1111C>T NP_004013.2:p.Gln371Ter
NM_004023.2:c.1111C>T NP_004014.1:p.Gln371Ter
NM_004023.3:c.1111C>T NP_004014.2:p.Gln371Ter
ENST00000343523.6:c.304C>T ENSP00000340057.3:p.Gln102Ter
ENST00000343523.7:c.346C>T ENSP00000340057.4:p.Gln116Ter
ENST00000357033.8:c.8491C>T ENSP00000354923.3:p.Gln2831Ter
ENST00000358062.6:c.1579C>T ENSP00000350765.2:p.Gln527Ter
ENST00000358062.7:c.3337C>T ENSP00000350765.3:p.Gln1113Ter
ENST00000359836.5:c.1111C>T ENSP00000352894.1:p.Gln371Ter
ENST00000378677.6:c.8479C>T ENSP00000367948.2:p.Gln2827Ter
ENST00000378707.7:c.1111C>T ENSP00000367979.3:p.Gln371Ter
ENST00000445312.1:n.548C>T
ENST00000474231.5:c.1111C>T ENSP00000417123.1:p.Gln371Ter
ENST00000541735.5:c.1111C>T ENSP00000444119.1:p.Gln371Ter
ENST00000619831.4:c.8476C>T ENSP00000479270.1:p.Gln2826Ter
ENST00000619831.5:c.4459C>T ENSP00000479270.2:p.Gln1487Ter
ENST00000620040.4:c.8488C>T ENSP00000478150.1:p.Gln2830Ter
ENST00000620040.5:c.1111C>T ENSP00000478150.2:p.Gln371Ter
ENST00000680961.1:c.1111C>T ENSP00000506386.1:p.Gln371Ter
ENST00000681646.1:n.2152C>T
ENST00000682238.1:c.1111C>T ENSP00000508124.1:p.Gln371Ter
ENST00000683450.1:n.1956C>T
ENST00000683957.1:n.1983C>T
ENST00000684130.1:c.1111C>T ENSP00000508037.1:p.Gln371Ter
XM_006724468.2:c.8491C>T XP_006724531.1:p.Gln2831Ter
XM_006724469.2:c.8467C>T XP_006724532.1:p.Gln2823Ter
XM_006724469.3:c.8467C>T XP_006724532.1:p.Gln2823Ter
XM_006724470.2:c.8491C>T XP_006724533.1:p.Gln2831Ter
XM_006724470.3:c.8491C>T XP_006724533.1:p.Gln2831Ter
XM_006724471.2:c.8491C>T XP_006724534.1:p.Gln2831Ter
XM_006724472.2:c.8362C>T XP_006724535.1:p.Gln2788Ter
XM_006724473.2:c.8353C>T XP_006724536.1:p.Gln2785Ter
XM_006724474.2:c.8491C>T XP_006724537.1:p.Gln2831Ter
XM_006724474.3:c.8491C>T XP_006724537.1:p.Gln2831Ter
XM_006724475.2:c.8491C>T XP_006724538.1:p.Gln2831Ter
XM_011545467.1:c.8368C>T XP_011543769.1:p.Gln2790Ter
XM_011545468.1:c.8491C>T XP_011543770.1:p.Gln2831Ter
XM_011545468.2:c.8491C>T XP_011543770.1:p.Gln2831Ter
XM_017029328.1:c.8491C>T XP_016884817.1:p.Gln2831Ter
XM_017029331.1:c.2665C>T XP_016884820.1:p.Gln889Ter