Canonical Allele Identifier: CA412659970
Community Standard Title: NM_004006.3(DMD):c.7048C>T (p.Gln2350Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31875238G>A , CM000685.2:g.31875238G>A GRCh38
NC_000023.10:g.31893355G>A , CM000685.1:g.31893355G>A GRCh37
NC_000023.9:g.31803276G>A NCBI36
NG_012232.1:g.1469372C>T , LRG_199:g.1469372C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.7048C>T MANE Select NP_003997.2:p.Gln2350Ter
ENST00000357033.9:c.7048C>T MANE Select ENSP00000354923.3:p.Gln2350Ter
NM_000109.3:c.7024C>T NP_000100.2:p.Gln2342Ter
NM_000109.4:c.7024C>T NP_000100.3:p.Gln2342Ter
NM_004006.2:c.7048C>T , LRG_199t1:c.7048C>T NP_003997.1:p.Gln2350Ter
NM_004009.3:c.7036C>T NP_004000.1:p.Gln2346Ter
NM_004010.3:c.6679C>T NP_004001.1:p.Gln2227Ter
NM_004011.3:c.3025C>T NP_004002.2:p.Gln1009Ter
NM_004011.4:c.3025C>T NP_004002.3:p.Gln1009Ter
NM_004012.3:c.3016C>T NP_004003.1:p.Gln1006Ter
NM_004012.4:c.3016C>T NP_004003.2:p.Gln1006Ter
NM_004013.2:c.-333C>T NP_004004.1:n.-333C>T
NM_004013.3:c.-333C>T NP_004004.2:n.-333C>T
NM_004020.3:c.-333C>T NP_004011.2:n.-333C>T
NM_004020.4:c.-333C>T NP_004011.3:n.-333C>T
NM_004021.2:c.-333C>T NP_004012.1:n.-333C>T
NM_004021.3:c.-333C>T NP_004012.2:n.-333C>T
NM_004022.2:c.-333C>T NP_004013.1:n.-333C>T
NM_004022.3:c.-333C>T NP_004013.2:n.-333C>T
NM_004023.2:c.-333C>T NP_004014.1:n.-333C>T
NM_004023.3:c.-333C>T NP_004014.2:n.-333C>T
ENST00000357033.8:c.7048C>T ENSP00000354923.3:p.Gln2350Ter
ENST00000358062.6:c.136C>T ENSP00000350765.2:p.Gln46Ter
ENST00000358062.7:c.1894C>T ENSP00000350765.3:p.Gln632Ter
ENST00000359836.5:c.-333C>T ENSP00000352894.1:n.-333C>T
ENST00000378677.6:c.7036C>T ENSP00000367948.2:p.Gln2346Ter
ENST00000378707.7:c.-333C>T ENSP00000367979.3:n.-333C>T
ENST00000474231.5:c.-333C>T ENSP00000417123.1:n.-333C>T
ENST00000541735.5:c.-333C>T ENSP00000444119.1:n.-333C>T
ENST00000619831.4:c.7033C>T ENSP00000479270.1:p.Gln2345Ter
ENST00000619831.5:c.3016C>T ENSP00000479270.2:p.Gln1006Ter
ENST00000620040.4:c.7045C>T ENSP00000478150.1:p.Gln2349Ter
ENST00000620040.5:c.-333C>T ENSP00000478150.2:n.-333C>T
ENST00000680961.1:c.-333C>T ENSP00000506386.1:n.-333C>T
ENST00000681646.1:n.709C>T
ENST00000682238.1:c.-333C>T ENSP00000508124.1:n.-333C>T
ENST00000683117.1:n.709C>T
ENST00000683450.1:n.631C>T
ENST00000683851.1:n.709C>T
ENST00000683957.1:n.540C>T
ENST00000684130.1:c.-333C>T ENSP00000508037.1:n.-333C>T
XM_006724468.2:c.7048C>T XP_006724531.1:p.Gln2350Ter
XM_006724469.2:c.7024C>T XP_006724532.1:p.Gln2342Ter
XM_006724469.3:c.7024C>T XP_006724532.1:p.Gln2342Ter
XM_006724470.2:c.7048C>T XP_006724533.1:p.Gln2350Ter
XM_006724470.3:c.7048C>T XP_006724533.1:p.Gln2350Ter
XM_006724471.2:c.7048C>T XP_006724534.1:p.Gln2350Ter
XM_006724472.2:c.6919C>T XP_006724535.1:p.Gln2307Ter
XM_006724473.2:c.6910C>T XP_006724536.1:p.Gln2304Ter
XM_006724474.2:c.7048C>T XP_006724537.1:p.Gln2350Ter
XM_006724474.3:c.7048C>T XP_006724537.1:p.Gln2350Ter
XM_006724475.2:c.7048C>T XP_006724538.1:p.Gln2350Ter
XM_011545467.1:c.6925C>T XP_011543769.1:p.Gln2309Ter
XM_011545468.1:c.7048C>T XP_011543770.1:p.Gln2350Ter
XM_011545468.2:c.7048C>T XP_011543770.1:p.Gln2350Ter
XM_017029328.1:c.7048C>T XP_016884817.1:p.Gln2350Ter
XM_017029331.1:c.1222C>T XP_016884820.1:p.Gln408Ter