Canonical Allele Identifier: CA10379442
Community Standard Title: NM_004006.3(DMD):c.2780C>T (p.Ala927Val)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32484942G>A , CM000685.2:g.32484942G>A GRCh38
NC_000023.10:g.32503059G>A , CM000685.1:g.32503059G>A GRCh37
NC_000023.9:g.32412980G>A NCBI36
NG_012232.1:g.859668C>T , LRG_199:g.859668C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.2780C>T MANE Select NP_003997.2:p.Ala927Val
ENST00000357033.9:c.2780C>T MANE Select ENSP00000354923.3:p.Ala927Val
NM_000109.3:c.2756C>T NP_000100.2:p.Ala919Val
NM_000109.4:c.2756C>T NP_000100.3:p.Ala919Val
NM_004006.2:c.2780C>T , LRG_199t1:c.2780C>T NP_003997.1:p.Ala927Val
NM_004009.3:c.2768C>T NP_004000.1:p.Ala923Val
NM_004010.3:c.2411C>T NP_004001.1:p.Ala804Val
ENST00000357033.8:c.2780C>T ENSP00000354923.3:p.Ala927Val
ENST00000378677.6:c.2768C>T ENSP00000367948.2:p.Ala923Val
ENST00000420596.5:c.94-119743C>T ENSP00000399897.1:n.94-119743C>T
ENST00000448370.5:c.94-120232C>T ENSP00000388559.1:n.94-120232C>T
ENST00000488902.5:n.336-267879C>T
ENST00000619831.4:c.2768C>T ENSP00000479270.1:p.Ala923Val
ENST00000620040.4:c.2780C>T ENSP00000478150.1:p.Ala927Val
ENST00000682899.1:n.2987C>T
ENST00000683985.1:n.2987C>T
XM_006724468.2:c.2780C>T XP_006724531.1:p.Ala927Val
XM_006724469.2:c.2756C>T XP_006724532.1:p.Ala919Val
XM_006724469.3:c.2756C>T XP_006724532.1:p.Ala919Val
XM_006724470.2:c.2780C>T XP_006724533.1:p.Ala927Val
XM_006724470.3:c.2780C>T XP_006724533.1:p.Ala927Val
XM_006724471.2:c.2780C>T XP_006724534.1:p.Ala927Val
XM_006724472.2:c.2651C>T XP_006724535.1:p.Ala884Val
XM_006724473.2:c.2780C>T XP_006724536.1:p.Ala927Val
XM_006724474.2:c.2780C>T XP_006724537.1:p.Ala927Val
XM_006724474.3:c.2780C>T XP_006724537.1:p.Ala927Val
XM_006724475.2:c.2780C>T XP_006724538.1:p.Ala927Val
XM_011545467.1:c.2780C>T XP_011543769.1:p.Ala927Val
XM_011545468.1:c.2780C>T XP_011543770.1:p.Ala927Val
XM_011545468.2:c.2780C>T XP_011543770.1:p.Ala927Val
XM_011545469.1:c.2780C>T XP_011543771.1:p.Ala927Val
XM_017029328.1:c.2780C>T XP_016884817.1:p.Ala927Val
XM_017029329.1:c.2780C>T XP_016884818.1:p.Ala927Val
XM_017029330.2:c.2780C>T XP_016884819.1:p.Ala927Val