Canonical Allele Identifier: CA412654635
Community Standard Title: NM_004006.3(DMD):c.8572A>T (p.Lys2858Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31479079T>A , CM000685.2:g.31479079T>A GRCh38
NC_000023.10:g.31497196T>A , CM000685.1:g.31497196T>A GRCh37
NC_000023.9:g.31407117T>A NCBI36
NG_012232.1:g.1865531A>T , LRG_199:g.1865531A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8572A>T MANE Select NP_003997.2:p.Lys2858Ter
ENST00000357033.9:c.8572A>T MANE Select ENSP00000354923.3:p.Lys2858Ter
NM_000109.3:c.8548A>T NP_000100.2:p.Lys2850Ter
NM_000109.4:c.8548A>T NP_000100.3:p.Lys2850Ter
NM_004006.2:c.8572A>T , LRG_199t1:c.8572A>T NP_003997.1:p.Lys2858Ter
NM_004009.3:c.8560A>T NP_004000.1:p.Lys2854Ter
NM_004010.3:c.8203A>T NP_004001.1:p.Lys2735Ter
NM_004011.3:c.4549A>T NP_004002.2:p.Lys1517Ter
NM_004011.4:c.4549A>T NP_004002.3:p.Lys1517Ter
NM_004012.3:c.4540A>T NP_004003.1:p.Lys1514Ter
NM_004012.4:c.4540A>T NP_004003.2:p.Lys1514Ter
NM_004013.2:c.1192A>T NP_004004.1:p.Lys398Ter
NM_004013.3:c.1192A>T NP_004004.2:p.Lys398Ter
NM_004014.2:c.385A>T NP_004005.1:p.Lys129Ter
NM_004014.3:c.385A>T NP_004005.2:p.Lys129Ter
NM_004020.3:c.1192A>T NP_004011.2:p.Lys398Ter
NM_004020.4:c.1192A>T NP_004011.3:p.Lys398Ter
NM_004021.2:c.1192A>T NP_004012.1:p.Lys398Ter
NM_004021.3:c.1192A>T NP_004012.2:p.Lys398Ter
NM_004022.2:c.1192A>T NP_004013.1:p.Lys398Ter
NM_004022.3:c.1192A>T NP_004013.2:p.Lys398Ter
NM_004023.2:c.1192A>T NP_004014.1:p.Lys398Ter
NM_004023.3:c.1192A>T NP_004014.2:p.Lys398Ter
ENST00000343523.6:c.385A>T ENSP00000340057.3:p.Lys129Ter
ENST00000343523.7:c.427A>T ENSP00000340057.4:p.Lys143Ter
ENST00000357033.8:c.8572A>T ENSP00000354923.3:p.Lys2858Ter
ENST00000358062.6:c.1660A>T ENSP00000350765.2:p.Lys554Ter
ENST00000358062.7:c.3418A>T ENSP00000350765.3:p.Lys1140Ter
ENST00000359836.5:c.1192A>T ENSP00000352894.1:p.Lys398Ter
ENST00000378677.6:c.8560A>T ENSP00000367948.2:p.Lys2854Ter
ENST00000378707.7:c.1192A>T ENSP00000367979.3:p.Lys398Ter
ENST00000445312.1:n.629A>T
ENST00000474231.5:c.1192A>T ENSP00000417123.1:p.Lys398Ter
ENST00000541735.5:c.1192A>T ENSP00000444119.1:p.Lys398Ter
ENST00000619831.4:c.8557A>T ENSP00000479270.1:p.Lys2853Ter
ENST00000619831.5:c.4540A>T ENSP00000479270.2:p.Lys1514Ter
ENST00000620040.4:c.8569A>T ENSP00000478150.1:p.Lys2857Ter
ENST00000620040.5:c.1192A>T ENSP00000478150.2:p.Lys398Ter
ENST00000680961.1:c.1192A>T ENSP00000506386.1:p.Lys398Ter
ENST00000681646.1:n.2233A>T
ENST00000682238.1:c.1192A>T ENSP00000508124.1:p.Lys398Ter
ENST00000683450.1:n.2037A>T
ENST00000683957.1:n.2064A>T
ENST00000684130.1:c.1192A>T ENSP00000508037.1:p.Lys398Ter
XM_006724468.2:c.8572A>T XP_006724531.1:p.Lys2858Ter
XM_006724469.2:c.8548A>T XP_006724532.1:p.Lys2850Ter
XM_006724469.3:c.8548A>T XP_006724532.1:p.Lys2850Ter
XM_006724470.2:c.8572A>T XP_006724533.1:p.Lys2858Ter
XM_006724470.3:c.8572A>T XP_006724533.1:p.Lys2858Ter
XM_006724471.2:c.8572A>T XP_006724534.1:p.Lys2858Ter
XM_006724472.2:c.8443A>T XP_006724535.1:p.Lys2815Ter
XM_006724473.2:c.8434A>T XP_006724536.1:p.Lys2812Ter
XM_006724474.2:c.8572A>T XP_006724537.1:p.Lys2858Ter
XM_006724474.3:c.8572A>T XP_006724537.1:p.Lys2858Ter
XM_006724475.2:c.8572A>T XP_006724538.1:p.Lys2858Ter
XM_011545467.1:c.8449A>T XP_011543769.1:p.Lys2817Ter
XM_011545468.1:c.8572A>T XP_011543770.1:p.Lys2858Ter
XM_011545468.2:c.8572A>T XP_011543770.1:p.Lys2858Ter
XM_017029328.1:c.8572A>T XP_016884817.1:p.Lys2858Ter
XM_017029331.1:c.2746A>T XP_016884820.1:p.Lys916Ter