Canonical Allele Identifier: CA412667964
Community Standard Title: NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32348483G>A , CM000685.2:g.32348483G>A GRCh38
NC_000023.10:g.32366600G>A , CM000685.1:g.32366600G>A GRCh37
NC_000023.9:g.32276521G>A NCBI36
NG_012232.1:g.996127C>T , LRG_199:g.996127C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.5371C>T MANE Select NP_003997.2:p.Gln1791Ter
ENST00000357033.9:c.5371C>T MANE Select ENSP00000354923.3:p.Gln1791Ter
NM_000109.3:c.5347C>T NP_000100.2:p.Gln1783Ter
NM_000109.4:c.5347C>T NP_000100.3:p.Gln1783Ter
NM_004006.2:c.5371C>T , LRG_199t1:c.5371C>T NP_003997.1:p.Gln1791Ter
NM_004009.3:c.5359C>T NP_004000.1:p.Gln1787Ter
NM_004010.3:c.5002C>T NP_004001.1:p.Gln1668Ter
NM_004011.3:c.1348C>T NP_004002.2:p.Gln450Ter
NM_004011.4:c.1348C>T NP_004002.3:p.Gln450Ter
NM_004012.3:c.1339C>T NP_004003.1:p.Gln447Ter
NM_004012.4:c.1339C>T NP_004003.2:p.Gln447Ter
ENST00000357033.8:c.5371C>T ENSP00000354923.3:p.Gln1791Ter
ENST00000358062.7:c.217C>T ENSP00000350765.3:p.Gln73Ter
ENST00000378677.6:c.5359C>T ENSP00000367948.2:p.Gln1787Ter
ENST00000488902.5:n.336-131420C>T
ENST00000493412.1:c.28C>T ENSP00000417725.1:p.Gln10Ter
ENST00000619831.4:c.5359C>T ENSP00000479270.1:p.Gln1787Ter
ENST00000619831.5:c.1339C>T ENSP00000479270.2:p.Gln447Ter
ENST00000620040.4:c.5371C>T ENSP00000478150.1:p.Gln1791Ter
XM_006724468.2:c.5371C>T XP_006724531.1:p.Gln1791Ter
XM_006724469.2:c.5347C>T XP_006724532.1:p.Gln1783Ter
XM_006724469.3:c.5347C>T XP_006724532.1:p.Gln1783Ter
XM_006724470.2:c.5371C>T XP_006724533.1:p.Gln1791Ter
XM_006724470.3:c.5371C>T XP_006724533.1:p.Gln1791Ter
XM_006724471.2:c.5371C>T XP_006724534.1:p.Gln1791Ter
XM_006724472.2:c.5242C>T XP_006724535.1:p.Gln1748Ter
XM_006724473.2:c.5371C>T XP_006724536.1:p.Gln1791Ter
XM_006724474.2:c.5371C>T XP_006724537.1:p.Gln1791Ter
XM_006724474.3:c.5371C>T XP_006724537.1:p.Gln1791Ter
XM_006724475.2:c.5371C>T XP_006724538.1:p.Gln1791Ter
XM_011545467.1:c.5326-2403C>T XP_011543769.1:n.5326-2403C>T
XM_011545468.1:c.5371C>T XP_011543770.1:p.Gln1791Ter
XM_011545468.2:c.5371C>T XP_011543770.1:p.Gln1791Ter
XM_011545469.1:c.5371C>T XP_011543771.1:p.Gln1791Ter
XM_017029328.1:c.5371C>T XP_016884817.1:p.Gln1791Ter
XM_017029329.1:c.5371C>T XP_016884818.1:p.Gln1791Ter
XM_017029330.2:c.5371C>T XP_016884819.1:p.Gln1791Ter