Canonical Allele Identifier: CA412653293
Community Standard Title: NM_004006.3(DMD):c.9959C>T (p.Pro3320Leu)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31182753G>A , CM000685.2:g.31182753G>A GRCh38
NC_000023.10:g.31200870G>A , CM000685.1:g.31200870G>A GRCh37
NC_000023.9:g.31110791G>A NCBI36
NG_012232.1:g.2161857C>T , LRG_199:g.2161857C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.9959C>T MANE Select NP_003997.2:p.Pro3320Leu
ENST00000357033.9:c.9959C>T MANE Select ENSP00000354923.3:p.Pro3320Leu
NM_000109.3:c.9935C>T NP_000100.2:p.Pro3312Leu
NM_000109.4:c.9935C>T NP_000100.3:p.Pro3312Leu
NM_004006.2:c.9959C>T , LRG_199t1:c.9959C>T NP_003997.1:p.Pro3320Leu
NM_004009.3:c.9947C>T NP_004000.1:p.Pro3316Leu
NM_004010.3:c.9590C>T NP_004001.1:p.Pro3197Leu
NM_004011.3:c.5936C>T NP_004002.2:p.Pro1979Leu
NM_004011.4:c.5936C>T NP_004002.3:p.Pro1979Leu
NM_004012.3:c.5927C>T NP_004003.1:p.Pro1976Leu
NM_004012.4:c.5927C>T NP_004003.2:p.Pro1976Leu
NM_004013.2:c.2579C>T NP_004004.1:p.Pro860Leu
NM_004013.3:c.2579C>T NP_004004.2:p.Pro860Leu
NM_004014.2:c.1772C>T NP_004005.1:p.Pro591Leu
NM_004014.3:c.1772C>T NP_004005.2:p.Pro591Leu
NM_004015.2:c.755C>T NP_004006.1:p.Pro252Leu
NM_004015.3:c.755C>T NP_004006.1:p.Pro252Leu
NM_004016.2:c.755C>T NP_004007.1:p.Pro252Leu
NM_004016.3:c.755C>T NP_004007.1:p.Pro252Leu
NM_004017.2:c.755C>T NP_004008.1:p.Pro252Leu
NM_004017.3:c.755C>T NP_004008.1:p.Pro252Leu
NM_004018.2:c.755C>T NP_004009.1:p.Pro252Leu
NM_004018.3:c.755C>T NP_004009.1:p.Pro252Leu
NM_004019.2:c.755C>T NP_004010.1:p.Pro252Leu
NM_004019.3:c.755C>T NP_004010.1:p.Pro252Leu
NM_004020.3:c.2579C>T NP_004011.2:p.Pro860Leu
NM_004020.4:c.2579C>T NP_004011.3:p.Pro860Leu
NM_004021.2:c.2579C>T NP_004012.1:p.Pro860Leu
NM_004021.3:c.2579C>T NP_004012.2:p.Pro860Leu
NM_004022.2:c.2579C>T NP_004013.1:p.Pro860Leu
NM_004022.3:c.2579C>T NP_004013.2:p.Pro860Leu
NM_004023.2:c.2579C>T NP_004014.1:p.Pro860Leu
NM_004023.3:c.2579C>T NP_004014.2:p.Pro860Leu
ENST00000343523.6:c.1772C>T ENSP00000340057.3:p.Pro591Leu
ENST00000343523.7:c.1814C>T ENSP00000340057.4:p.Pro605Leu
ENST00000357033.8:c.9959C>T ENSP00000354923.3:p.Pro3320Leu
ENST00000358062.6:c.3047C>T ENSP00000350765.2:p.Pro1016Leu
ENST00000358062.7:c.4805C>T ENSP00000350765.3:p.Pro1602Leu
ENST00000359836.5:c.2579C>T ENSP00000352894.1:p.Pro860Leu
ENST00000361471.8:c.755C>T ENSP00000354464.4:p.Pro252Leu
ENST00000378677.6:c.9947C>T ENSP00000367948.2:p.Pro3316Leu
ENST00000378680.6:c.755C>T ENSP00000367951.2:p.Pro252Leu
ENST00000378702.8:c.755C>T ENSP00000367974.4:p.Pro252Leu
ENST00000378705.3:c.329C>T ENSP00000367977.3:p.Pro110Leu
ENST00000378707.7:c.2579C>T ENSP00000367979.3:p.Pro860Leu
ENST00000378723.7:c.755C>T ENSP00000367997.3:p.Pro252Leu
ENST00000474231.5:c.2579C>T ENSP00000417123.1:p.Pro860Leu
ENST00000475732.1:n.175C>T
ENST00000475732.2:n.325C>T
ENST00000475732.3:n.50C>T
ENST00000541735.5:c.2579C>T ENSP00000444119.1:p.Pro860Leu
ENST00000619831.4:c.9944C>T ENSP00000479270.1:p.Pro3315Leu
ENST00000619831.5:c.5927C>T ENSP00000479270.2:p.Pro1976Leu
ENST00000620040.4:c.9956C>T ENSP00000478150.1:p.Pro3319Leu
ENST00000620040.5:c.2579C>T ENSP00000478150.2:p.Pro860Leu
ENST00000679641.1:c.604-2272C>T ENSP00000506135.1:n.604-2272C>T
ENST00000680162.1:c.632C>T ENSP00000506634.1:p.Pro211Leu
ENST00000680162.2:c.755C>T ENSP00000506634.2:p.Pro252Leu
ENST00000680355.1:c.755C>T ENSP00000506257.1:p.Pro252Leu
ENST00000680557.1:c.603+21208C>T ENSP00000505164.1:n.603+21208C>T
ENST00000680768.1:c.698C>T ENSP00000506359.1:p.Pro233Leu
ENST00000680768.2:c.755C>T ENSP00000506359.2:p.Pro252Leu
ENST00000680961.1:c.2428-2272C>T ENSP00000506386.1:n.2428-2272C>T
ENST00000681153.1:c.755C>T ENSP00000505124.1:p.Pro252Leu
ENST00000681654.1:n.889C>T
ENST00000681989.1:n.757C>T
ENST00000682238.1:c.2579C>T ENSP00000508124.1:p.Pro860Leu
ENST00000682322.1:c.755C>T ENSP00000507690.1:p.Pro252Leu
ENST00000682600.1:c.755C>T ENSP00000507640.1:p.Pro252Leu
ENST00000682769.1:n.606-2272C>T
ENST00000683509.1:n.1476C>T
ENST00000683675.1:n.1058C>T
ENST00000683709.1:n.1477C>T
ENST00000683957.1:n.3451C>T
ENST00000684130.1:c.2579C>T ENSP00000508037.1:p.Pro860Leu
XM_006724468.2:c.9959C>T XP_006724531.1:p.Pro3320Leu
XM_006724469.2:c.9935C>T XP_006724532.1:p.Pro3312Leu
XM_006724469.3:c.9935C>T XP_006724532.1:p.Pro3312Leu
XM_006724470.2:c.9959C>T XP_006724533.1:p.Pro3320Leu
XM_006724470.3:c.9959C>T XP_006724533.1:p.Pro3320Leu
XM_006724471.2:c.9959C>T XP_006724534.1:p.Pro3320Leu
XM_006724472.2:c.9830C>T XP_006724535.1:p.Pro3277Leu
XM_006724473.2:c.9821C>T XP_006724536.1:p.Pro3274Leu
XM_006724474.2:c.9959C>T XP_006724537.1:p.Pro3320Leu
XM_006724474.3:c.9959C>T XP_006724537.1:p.Pro3320Leu
XM_006724475.2:c.9959C>T XP_006724538.1:p.Pro3320Leu
XM_011545467.1:c.9836C>T XP_011543769.1:p.Pro3279Leu
XM_017029328.1:c.9959C>T XP_016884817.1:p.Pro3320Leu
XM_017029331.1:c.4133C>T XP_016884820.1:p.Pro1378Leu