Canonical Allele Identifier: CA267193
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 94856
dbSNP Id: rs141392048
gnomAD v2: X-31222203-A-G
gnomAD v3: X-31204086-A-G
gnomAD v4: X-31204086-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31204086A>G , CM000685.2:g.31204086A>G GRCh38
NC_000023.10:g.31222203A>G , CM000685.1:g.31222203A>G GRCh37
NC_000023.9:g.31132124A>G NCBI36
NG_012232.1:g.2140524T>C , LRG_199:g.2140524T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.4528T>C ENSP00000350765.3:p.Phe1510Leu
ENST00000680162.2:c.478T>C ENSP00000506634.2:p.Phe160Leu
ENST00000680768.2:c.478T>C ENSP00000506359.2:p.Phe160Leu
ENST00000681989.1:n.480T>C
ENST00000682238.1:c.2302T>C ENSP00000508124.1:p.Phe768Leu
ENST00000682322.1:c.478T>C ENSP00000507690.1:p.Phe160Leu
ENST00000682600.1:c.478T>C ENSP00000507640.1:p.Phe160Leu
ENST00000682769.1:n.480T>C
ENST00000683509.1:n.1199T>C
ENST00000683675.1:n.781T>C
ENST00000683709.1:n.1200T>C
ENST00000683957.1:n.3174T>C
ENST00000684130.1:c.2302T>C ENSP00000508037.1:p.Phe768Leu
ENST00000343523.7:c.1537T>C ENSP00000340057.4:p.Phe513Leu
ENST00000357033.9:c.9682T>C MANE Select ENSP00000354923.3:p.Phe3228Leu
ENST00000619831.5:c.5650T>C ENSP00000479270.2:p.Phe1884Leu
ENST00000620040.5:c.2302T>C ENSP00000478150.2:p.Phe768Leu
ENST00000679641.1:c.478T>C ENSP00000506135.1:p.Phe160Leu
ENST00000680162.1:c.355T>C ENSP00000506634.1:p.Phe119Leu
ENST00000680355.1:c.478T>C ENSP00000506257.1:p.Phe160Leu
ENST00000680557.1:c.478T>C ENSP00000505164.1:p.Phe160Leu
ENST00000680768.1:c.421T>C ENSP00000506359.1:p.Phe141Leu
ENST00000680961.1:c.2302T>C ENSP00000506386.1:p.Phe768Leu
ENST00000681153.1:c.478T>C ENSP00000505124.1:p.Phe160Leu
ENST00000681334.1:c.478T>C ENSP00000506066.1:p.Phe160Leu
ENST00000681654.1:n.612T>C
ENST00000343523.6:c.1495T>C ENSP00000340057.3:p.Phe499Leu
ENST00000357033.8:c.9682T>C ENSP00000354923.3:p.Phe3228Leu
ENST00000358062.6:c.2770T>C ENSP00000350765.2:p.Phe924Leu
ENST00000359836.5:c.2302T>C ENSP00000352894.1:p.Phe768Leu
ENST00000361471.8:c.478T>C ENSP00000354464.4:p.Phe160Leu
ENST00000378677.6:c.9670T>C ENSP00000367948.2:p.Phe3224Leu
ENST00000378680.6:c.478T>C ENSP00000367951.2:p.Phe160Leu
ENST00000378702.8:c.478T>C ENSP00000367974.4:p.Phe160Leu
ENST00000378705.3:c.52T>C ENSP00000367977.3:p.Phe18Leu
ENST00000378707.7:c.2302T>C ENSP00000367979.3:p.Phe768Leu
ENST00000378723.7:c.478T>C ENSP00000367997.3:p.Phe160Leu
ENST00000474231.5:c.2302T>C ENSP00000417123.1:p.Phe768Leu
ENST00000541735.5:c.2302T>C ENSP00000444119.1:p.Phe768Leu
ENST00000619831.4:c.9667T>C ENSP00000479270.1:p.Phe3223Leu
ENST00000620040.4:c.9679T>C ENSP00000478150.1:p.Phe3227Leu
NM_000109.3:c.9658T>C NP_000100.2:p.Phe3220Leu
NM_004006.2:c.9682T>C , LRG_199t1:c.9682T>C NP_003997.1:p.Phe3228Leu
NM_004009.3:c.9670T>C NP_004000.1:p.Phe3224Leu
NM_004010.3:c.9313T>C NP_004001.1:p.Phe3105Leu
NM_004011.3:c.5659T>C NP_004002.2:p.Phe1887Leu
NM_004012.3:c.5650T>C NP_004003.1:p.Phe1884Leu
NM_004013.2:c.2302T>C NP_004004.1:p.Phe768Leu
NM_004014.2:c.1495T>C NP_004005.1:p.Phe499Leu
NM_004015.2:c.478T>C NP_004006.1:p.Phe160Leu
NM_004016.2:c.478T>C NP_004007.1:p.Phe160Leu
NM_004017.2:c.478T>C NP_004008.1:p.Phe160Leu
NM_004018.2:c.478T>C NP_004009.1:p.Phe160Leu
NM_004019.2:c.478T>C NP_004010.1:p.Phe160Leu
NM_004020.3:c.2302T>C NP_004011.2:p.Phe768Leu
NM_004021.2:c.2302T>C NP_004012.1:p.Phe768Leu
NM_004022.2:c.2302T>C NP_004013.1:p.Phe768Leu
NM_004023.2:c.2302T>C NP_004014.1:p.Phe768Leu
XM_006724468.2:c.9682T>C XP_006724531.1:p.Phe3228Leu
XM_006724469.2:c.9658T>C XP_006724532.1:p.Phe3220Leu
XM_006724470.2:c.9682T>C XP_006724533.1:p.Phe3228Leu
XM_006724471.2:c.9682T>C XP_006724534.1:p.Phe3228Leu
XM_006724472.2:c.9553T>C XP_006724535.1:p.Phe3185Leu
XM_006724473.2:c.9544T>C XP_006724536.1:p.Phe3182Leu
XM_006724474.2:c.9682T>C XP_006724537.1:p.Phe3228Leu
XM_006724475.2:c.9682T>C XP_006724538.1:p.Phe3228Leu
XM_011545467.1:c.9559T>C XP_011543769.1:p.Phe3187Leu
XM_011545468.1:c.9682T>C XP_011543770.1:p.Phe3228Leu
XM_006724469.3:c.9658T>C XP_006724532.1:p.Phe3220Leu
XM_006724470.3:c.9682T>C XP_006724533.1:p.Phe3228Leu
XM_006724474.3:c.9682T>C XP_006724537.1:p.Phe3228Leu
XM_011545468.2:c.9682T>C XP_011543770.1:p.Phe3228Leu
XM_017029328.1:c.9682T>C XP_016884817.1:p.Phe3228Leu
XM_017029331.1:c.3856T>C XP_016884820.1:p.Phe1286Leu
NM_000109.4:c.9658T>C NP_000100.3:p.Phe3220Leu
NM_004006.3:c.9682T>C MANE Select NP_003997.2:p.Phe3228Leu
NM_004011.4:c.5659T>C NP_004002.3:p.Phe1887Leu
NM_004012.4:c.5650T>C NP_004003.2:p.Phe1884Leu
NM_004015.3:c.478T>C NP_004006.1:p.Phe160Leu
NM_004016.3:c.478T>C NP_004007.1:p.Phe160Leu
NM_004017.3:c.478T>C NP_004008.1:p.Phe160Leu
NM_004018.3:c.478T>C NP_004009.1:p.Phe160Leu
NM_004019.3:c.478T>C NP_004010.1:p.Phe160Leu
NM_004021.3:c.2302T>C NP_004012.2:p.Phe768Leu
NM_004023.3:c.2302T>C NP_004014.2:p.Phe768Leu
NM_004013.3:c.2302T>C NP_004004.2:p.Phe768Leu
NM_004014.3:c.1495T>C NP_004005.2:p.Phe499Leu
NM_004020.4:c.2302T>C NP_004011.3:p.Phe768Leu
NM_004022.3:c.2302T>C NP_004013.2:p.Phe768Leu