Canonical Allele Identifier: CA10588767
Community Standard Title: NM_004006.3(DMD):c.9148C>T (p.Gln3050Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31348571G>A , CM000685.2:g.31348571G>A GRCh38
NC_000023.10:g.31366688G>A , CM000685.1:g.31366688G>A GRCh37
NC_000023.9:g.31276609G>A NCBI36
NG_012232.1:g.1996039C>T , LRG_199:g.1996039C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.9148C>T MANE Select NP_003997.2:p.Gln3050Ter
ENST00000357033.9:c.9148C>T MANE Select ENSP00000354923.3:p.Gln3050Ter
NM_000109.3:c.9124C>T NP_000100.2:p.Gln3042Ter
NM_000109.4:c.9124C>T NP_000100.3:p.Gln3042Ter
NM_004006.2:c.9148C>T , LRG_199t1:c.9148C>T NP_003997.1:p.Gln3050Ter
NM_004009.3:c.9136C>T NP_004000.1:p.Gln3046Ter
NM_004010.3:c.8779C>T NP_004001.1:p.Gln2927Ter
NM_004011.3:c.5125C>T NP_004002.2:p.Gln1709Ter
NM_004011.4:c.5125C>T NP_004002.3:p.Gln1709Ter
NM_004012.3:c.5116C>T NP_004003.1:p.Gln1706Ter
NM_004012.4:c.5116C>T NP_004003.2:p.Gln1706Ter
NM_004013.2:c.1768C>T NP_004004.1:p.Gln590Ter
NM_004013.3:c.1768C>T NP_004004.2:p.Gln590Ter
NM_004014.2:c.961C>T NP_004005.1:p.Gln321Ter
NM_004014.3:c.961C>T NP_004005.2:p.Gln321Ter
NM_004020.3:c.1768C>T NP_004011.2:p.Gln590Ter
NM_004020.4:c.1768C>T NP_004011.3:p.Gln590Ter
NM_004021.2:c.1768C>T NP_004012.1:p.Gln590Ter
NM_004021.3:c.1768C>T NP_004012.2:p.Gln590Ter
NM_004022.2:c.1768C>T NP_004013.1:p.Gln590Ter
NM_004022.3:c.1768C>T NP_004013.2:p.Gln590Ter
NM_004023.2:c.1768C>T NP_004014.1:p.Gln590Ter
NM_004023.3:c.1768C>T NP_004014.2:p.Gln590Ter
ENST00000343523.6:c.961C>T ENSP00000340057.3:p.Gln321Ter
ENST00000343523.7:c.1003C>T ENSP00000340057.4:p.Gln335Ter
ENST00000357033.8:c.9148C>T ENSP00000354923.3:p.Gln3050Ter
ENST00000358062.6:c.2236C>T ENSP00000350765.2:p.Gln746Ter
ENST00000358062.7:c.3994C>T ENSP00000350765.3:p.Gln1332Ter
ENST00000359836.5:c.1768C>T ENSP00000352894.1:p.Gln590Ter
ENST00000378677.6:c.9136C>T ENSP00000367948.2:p.Gln3046Ter
ENST00000378707.7:c.1768C>T ENSP00000367979.3:p.Gln590Ter
ENST00000469142.1:n.167C>T
ENST00000474231.5:c.1768C>T ENSP00000417123.1:p.Gln590Ter
ENST00000541735.5:c.1768C>T ENSP00000444119.1:p.Gln590Ter
ENST00000619831.4:c.9133C>T ENSP00000479270.1:p.Gln3045Ter
ENST00000619831.5:c.5116C>T ENSP00000479270.2:p.Gln1706Ter
ENST00000620040.4:c.9145C>T ENSP00000478150.1:p.Gln3049Ter
ENST00000620040.5:c.1768C>T ENSP00000478150.2:p.Gln590Ter
ENST00000680961.1:c.1768C>T ENSP00000506386.1:p.Gln590Ter
ENST00000681646.1:n.2809C>T
ENST00000682238.1:c.1768C>T ENSP00000508124.1:p.Gln590Ter
ENST00000683675.1:n.247C>T
ENST00000683957.1:n.2640C>T
ENST00000684130.1:c.1768C>T ENSP00000508037.1:p.Gln590Ter
XM_006724468.2:c.9148C>T XP_006724531.1:p.Gln3050Ter
XM_006724469.2:c.9124C>T XP_006724532.1:p.Gln3042Ter
XM_006724469.3:c.9124C>T XP_006724532.1:p.Gln3042Ter
XM_006724470.2:c.9148C>T XP_006724533.1:p.Gln3050Ter
XM_006724470.3:c.9148C>T XP_006724533.1:p.Gln3050Ter
XM_006724471.2:c.9148C>T XP_006724534.1:p.Gln3050Ter
XM_006724472.2:c.9019C>T XP_006724535.1:p.Gln3007Ter
XM_006724473.2:c.9010C>T XP_006724536.1:p.Gln3004Ter
XM_006724474.2:c.9148C>T XP_006724537.1:p.Gln3050Ter
XM_006724474.3:c.9148C>T XP_006724537.1:p.Gln3050Ter
XM_006724475.2:c.9148C>T XP_006724538.1:p.Gln3050Ter
XM_011545467.1:c.9025C>T XP_011543769.1:p.Gln3009Ter
XM_011545468.1:c.9148C>T XP_011543770.1:p.Gln3050Ter
XM_011545468.2:c.9148C>T XP_011543770.1:p.Gln3050Ter
XM_017029328.1:c.9148C>T XP_016884817.1:p.Gln3050Ter
XM_017029331.1:c.3322C>T XP_016884820.1:p.Gln1108Ter