Canonical Allele Identifier: CA358809

Gene: DMD

Linked Data

• ClinVar Variation Id: 225615
• ClinVar RCV Id: RCV000210931 ; RCV000582216
• dbSNP Id: rs779739455
• MyVariant Identifiers: chrX:g.31986568C>A (hg19) ; chrX:g.31968451C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31968451C>A , CM000685.2:g.31968451C>A	GRCh38
NC_000023.10:g.31986568C>A , CM000685.1:g.31986568C>A	GRCh37
NC_000023.9:g.31896489C>A	NCBI36
NG_012232.1:g.1376159G>T , LRG_199:g.1376159G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.1348G>T	ENSP00000350765.3:p.Glu450Ter
ENST00000682135.1:n.163G>T
ENST00000682183.1:n.163G>T
ENST00000682238.1:c.-879G>T	ENSP00000508124.1:n.-879G>T
ENST00000683117.1:n.163G>T
ENST00000683450.1:n.163G>T
ENST00000683851.1:n.163G>T
ENST00000684130.1:c.-879G>T	ENSP00000508037.1:n.-879G>T
ENST00000357033.9:c.6502G>T MANE Select	ENSP00000354923.3:p.Glu2168Ter
ENST00000619831.5:c.2470G>T	ENSP00000479270.2:p.Glu824Ter
ENST00000620040.5:c.-879G>T	ENSP00000478150.2:n.-879G>T
ENST00000680961.1:c.-879G>T	ENSP00000506386.1:n.-879G>T
ENST00000681646.1:n.163G>T
ENST00000357033.8:c.6502G>T	ENSP00000354923.3:p.Glu2168Ter
ENST00000359836.5:c.-879G>T	ENSP00000352894.1:n.-879G>T
ENST00000378677.6:c.6490G>T	ENSP00000367948.2:p.Glu2164Ter
ENST00000378707.7:c.-879G>T	ENSP00000367979.3:n.-879G>T
ENST00000474231.5:c.-879G>T	ENSP00000417123.1:n.-879G>T
ENST00000488902.5:n.547G>T
ENST00000541735.5:c.-879G>T	ENSP00000444119.1:n.-879G>T
ENST00000619831.4:c.6488-1G>T	ENSP00000479270.1:n.6488-1G>T
ENST00000620040.4:c.6500-1G>T	ENSP00000478150.1:n.6500-1G>T
NM_000109.3:c.6478G>T	NP_000100.2:p.Glu2160Ter
NM_004006.2:c.6502G>T , LRG_199t1:c.6502G>T	NP_003997.1:p.Glu2168Ter
NM_004009.3:c.6490G>T	NP_004000.1:p.Glu2164Ter
NM_004010.3:c.6133G>T	NP_004001.1:p.Glu2045Ter
NM_004011.3:c.2479G>T	NP_004002.2:p.Glu827Ter
NM_004012.3:c.2470G>T	NP_004003.1:p.Glu824Ter
NM_004013.2:c.-879G>T	NP_004004.1:n.-879G>T
NM_004020.3:c.-879G>T	NP_004011.2:n.-879G>T
NM_004021.2:c.-879G>T	NP_004012.1:n.-879G>T
NM_004022.2:c.-879G>T	NP_004013.1:n.-879G>T
NM_004023.2:c.-879G>T	NP_004014.1:n.-879G>T
XM_006724468.2:c.6502G>T	XP_006724531.1:p.Glu2168Ter
XM_006724469.2:c.6478G>T	XP_006724532.1:p.Glu2160Ter
XM_006724470.2:c.6502G>T	XP_006724533.1:p.Glu2168Ter
XM_006724471.2:c.6502G>T	XP_006724534.1:p.Glu2168Ter
XM_006724472.2:c.6373G>T	XP_006724535.1:p.Glu2125Ter
XM_006724473.2:c.6364G>T	XP_006724536.1:p.Glu2122Ter
XM_006724474.2:c.6502G>T	XP_006724537.1:p.Glu2168Ter
XM_006724475.2:c.6502G>T	XP_006724538.1:p.Glu2168Ter
XM_011545467.1:c.6379G>T	XP_011543769.1:p.Glu2127Ter
XM_011545468.1:c.6502G>T	XP_011543770.1:p.Glu2168Ter
XM_006724469.3:c.6478G>T	XP_006724532.1:p.Glu2160Ter
XM_006724470.3:c.6502G>T	XP_006724533.1:p.Glu2168Ter
XM_006724474.3:c.6502G>T	XP_006724537.1:p.Glu2168Ter
XM_011545468.2:c.6502G>T	XP_011543770.1:p.Glu2168Ter
XM_017029328.1:c.6502G>T	XP_016884817.1:p.Glu2168Ter
XM_017029331.1:c.676G>T	XP_016884820.1:p.Glu226Ter
NM_000109.4:c.6478G>T	NP_000100.3:p.Glu2160Ter
NM_004006.3:c.6502G>T MANE Select	NP_003997.2:p.Glu2168Ter
NM_004011.4:c.2479G>T	NP_004002.3:p.Glu827Ter
NM_004012.4:c.2470G>T	NP_004003.2:p.Glu824Ter
NM_004021.3:c.-879G>T	NP_004012.2:n.-879G>T
NM_004023.3:c.-879G>T	NP_004014.2:n.-879G>T
NM_004013.3:c.-879G>T	NP_004004.2:n.-879G>T
NM_004020.4:c.-879G>T	NP_004011.3:n.-879G>T
NM_004022.3:c.-879G>T	NP_004013.2:n.-879G>T