Canonical Allele Identifier: CA412654627

Gene: DMD

Linked Data

• ClinVar Variation Id: 450806
• ClinVar RCV Id: RCV000519134 ; RCV001271296 ; RCV001857987
• dbSNP Id: rs1556656851
• MyVariant Identifiers: chrX:g.31497193C>A (hg19) ; chrX:g.31479076C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31479076C>A , CM000685.2:g.31479076C>A	GRCh38
NC_000023.10:g.31497193C>A , CM000685.1:g.31497193C>A	GRCh37
NC_000023.9:g.31407114C>A	NCBI36
NG_012232.1:g.1865534G>T , LRG_199:g.1865534G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3421G>T	ENSP00000350765.3:p.Glu1141Ter
ENST00000682238.1:c.1195G>T	ENSP00000508124.1:p.Glu399Ter
ENST00000683450.1:n.2040G>T
ENST00000683957.1:n.2067G>T
ENST00000684130.1:c.1195G>T	ENSP00000508037.1:p.Glu399Ter
ENST00000343523.7:c.430G>T	ENSP00000340057.4:p.Glu144Ter
ENST00000357033.9:c.8575G>T MANE Select	ENSP00000354923.3:p.Glu2859Ter
ENST00000619831.5:c.4543G>T	ENSP00000479270.2:p.Glu1515Ter
ENST00000620040.5:c.1195G>T	ENSP00000478150.2:p.Glu399Ter
ENST00000680961.1:c.1195G>T	ENSP00000506386.1:p.Glu399Ter
ENST00000681646.1:n.2236G>T
ENST00000343523.6:c.388G>T	ENSP00000340057.3:p.Glu130Ter
ENST00000357033.8:c.8575G>T	ENSP00000354923.3:p.Glu2859Ter
ENST00000358062.6:c.1663G>T	ENSP00000350765.2:p.Glu555Ter
ENST00000359836.5:c.1195G>T	ENSP00000352894.1:p.Glu399Ter
ENST00000378677.6:c.8563G>T	ENSP00000367948.2:p.Glu2855Ter
ENST00000378707.7:c.1195G>T	ENSP00000367979.3:p.Glu399Ter
ENST00000445312.1:n.632G>T
ENST00000474231.5:c.1195G>T	ENSP00000417123.1:p.Glu399Ter
ENST00000541735.5:c.1195G>T	ENSP00000444119.1:p.Glu399Ter
ENST00000619831.4:c.8560G>T	ENSP00000479270.1:p.Glu2854Ter
ENST00000620040.4:c.8572G>T	ENSP00000478150.1:p.Glu2858Ter
NM_000109.3:c.8551G>T	NP_000100.2:p.Glu2851Ter
NM_004006.2:c.8575G>T , LRG_199t1:c.8575G>T	NP_003997.1:p.Glu2859Ter
NM_004009.3:c.8563G>T	NP_004000.1:p.Glu2855Ter
NM_004010.3:c.8206G>T	NP_004001.1:p.Glu2736Ter
NM_004011.3:c.4552G>T	NP_004002.2:p.Glu1518Ter
NM_004012.3:c.4543G>T	NP_004003.1:p.Glu1515Ter
NM_004013.2:c.1195G>T	NP_004004.1:p.Glu399Ter
NM_004014.2:c.388G>T	NP_004005.1:p.Glu130Ter
NM_004020.3:c.1195G>T	NP_004011.2:p.Glu399Ter
NM_004021.2:c.1195G>T	NP_004012.1:p.Glu399Ter
NM_004022.2:c.1195G>T	NP_004013.1:p.Glu399Ter
NM_004023.2:c.1195G>T	NP_004014.1:p.Glu399Ter
XM_006724468.2:c.8575G>T	XP_006724531.1:p.Glu2859Ter
XM_006724469.2:c.8551G>T	XP_006724532.1:p.Glu2851Ter
XM_006724470.2:c.8575G>T	XP_006724533.1:p.Glu2859Ter
XM_006724471.2:c.8575G>T	XP_006724534.1:p.Glu2859Ter
XM_006724472.2:c.8446G>T	XP_006724535.1:p.Glu2816Ter
XM_006724473.2:c.8437G>T	XP_006724536.1:p.Glu2813Ter
XM_006724474.2:c.8575G>T	XP_006724537.1:p.Glu2859Ter
XM_006724475.2:c.8575G>T	XP_006724538.1:p.Glu2859Ter
XM_011545467.1:c.8452G>T	XP_011543769.1:p.Glu2818Ter
XM_011545468.1:c.8575G>T	XP_011543770.1:p.Glu2859Ter
XM_006724469.3:c.8551G>T	XP_006724532.1:p.Glu2851Ter
XM_006724470.3:c.8575G>T	XP_006724533.1:p.Glu2859Ter
XM_006724474.3:c.8575G>T	XP_006724537.1:p.Glu2859Ter
XM_011545468.2:c.8575G>T	XP_011543770.1:p.Glu2859Ter
XM_017029328.1:c.8575G>T	XP_016884817.1:p.Glu2859Ter
XM_017029331.1:c.2749G>T	XP_016884820.1:p.Glu917Ter
NM_000109.4:c.8551G>T	NP_000100.3:p.Glu2851Ter
NM_004006.3:c.8575G>T MANE Select	NP_003997.2:p.Glu2859Ter
NM_004011.4:c.4552G>T	NP_004002.3:p.Glu1518Ter
NM_004012.4:c.4543G>T	NP_004003.2:p.Glu1515Ter
NM_004021.3:c.1195G>T	NP_004012.2:p.Glu399Ter
NM_004023.3:c.1195G>T	NP_004014.2:p.Glu399Ter
NM_004013.3:c.1195G>T	NP_004004.2:p.Glu399Ter
NM_004014.3:c.388G>T	NP_004005.2:p.Glu130Ter
NM_004020.4:c.1195G>T	NP_004011.3:p.Glu399Ter
NM_004022.3:c.1195G>T	NP_004013.2:p.Glu399Ter