Canonical Allele Identifier: CA412651708

Gene: DMD

Linked Data

• ClinVar Variation Id: 526087
• ClinVar RCV Id: RCV000630551
• dbSNP Id: rs1556503937
• MyVariant Identifiers: chrX:g.31341756C>T (hg19) ; chrX:g.31323639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31323639C>T , CM000685.2:g.31323639C>T	GRCh38
NC_000023.10:g.31341756C>T , CM000685.1:g.31341756C>T	GRCh37
NC_000023.9:g.31251677C>T	NCBI36
NG_012232.1:g.2020971G>A , LRG_199:g.2020971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.4029G>A	ENSP00000350765.3:p.Trp1343Ter
ENST00000682238.1:c.1803G>A	ENSP00000508124.1:p.Trp601Ter
ENST00000683675.1:n.282G>A
ENST00000683957.1:n.2675G>A
ENST00000684130.1:c.1803G>A	ENSP00000508037.1:p.Trp601Ter
ENST00000343523.7:c.1038G>A	ENSP00000340057.4:p.Trp346Ter
ENST00000357033.9:c.9183G>A MANE Select	ENSP00000354923.3:p.Trp3061Ter
ENST00000619831.5:c.5151G>A	ENSP00000479270.2:p.Trp1717Ter
ENST00000620040.5:c.1803G>A	ENSP00000478150.2:p.Trp601Ter
ENST00000680961.1:c.1803G>A	ENSP00000506386.1:p.Trp601Ter
ENST00000681646.1:n.2844G>A
ENST00000343523.6:c.996G>A	ENSP00000340057.3:p.Trp332Ter
ENST00000357033.8:c.9183G>A	ENSP00000354923.3:p.Trp3061Ter
ENST00000358062.6:c.2271G>A	ENSP00000350765.2:p.Trp757Ter
ENST00000359836.5:c.1803G>A	ENSP00000352894.1:p.Trp601Ter
ENST00000378677.6:c.9171G>A	ENSP00000367948.2:p.Trp3057Ter
ENST00000378707.7:c.1803G>A	ENSP00000367979.3:p.Trp601Ter
ENST00000469142.1:n.202G>A
ENST00000474231.5:c.1803G>A	ENSP00000417123.1:p.Trp601Ter
ENST00000541735.5:c.1803G>A	ENSP00000444119.1:p.Trp601Ter
ENST00000619831.4:c.9168G>A	ENSP00000479270.1:p.Trp3056Ter
ENST00000620040.4:c.9180G>A	ENSP00000478150.1:p.Trp3060Ter
NM_000109.3:c.9159G>A	NP_000100.2:p.Trp3053Ter
NM_004006.2:c.9183G>A , LRG_199t1:c.9183G>A	NP_003997.1:p.Trp3061Ter
NM_004009.3:c.9171G>A	NP_004000.1:p.Trp3057Ter
NM_004010.3:c.8814G>A	NP_004001.1:p.Trp2938Ter
NM_004011.3:c.5160G>A	NP_004002.2:p.Trp1720Ter
NM_004012.3:c.5151G>A	NP_004003.1:p.Trp1717Ter
NM_004013.2:c.1803G>A	NP_004004.1:p.Trp601Ter
NM_004014.2:c.996G>A	NP_004005.1:p.Trp332Ter
NM_004020.3:c.1803G>A	NP_004011.2:p.Trp601Ter
NM_004021.2:c.1803G>A	NP_004012.1:p.Trp601Ter
NM_004022.2:c.1803G>A	NP_004013.1:p.Trp601Ter
NM_004023.2:c.1803G>A	NP_004014.1:p.Trp601Ter
XM_006724468.2:c.9183G>A	XP_006724531.1:p.Trp3061Ter
XM_006724469.2:c.9159G>A	XP_006724532.1:p.Trp3053Ter
XM_006724470.2:c.9183G>A	XP_006724533.1:p.Trp3061Ter
XM_006724471.2:c.9183G>A	XP_006724534.1:p.Trp3061Ter
XM_006724472.2:c.9054G>A	XP_006724535.1:p.Trp3018Ter
XM_006724473.2:c.9045G>A	XP_006724536.1:p.Trp3015Ter
XM_006724474.2:c.9183G>A	XP_006724537.1:p.Trp3061Ter
XM_006724475.2:c.9183G>A	XP_006724538.1:p.Trp3061Ter
XM_011545467.1:c.9060G>A	XP_011543769.1:p.Trp3020Ter
XM_011545468.1:c.9183G>A	XP_011543770.1:p.Trp3061Ter
XM_006724469.3:c.9159G>A	XP_006724532.1:p.Trp3053Ter
XM_006724470.3:c.9183G>A	XP_006724533.1:p.Trp3061Ter
XM_006724474.3:c.9183G>A	XP_006724537.1:p.Trp3061Ter
XM_011545468.2:c.9183G>A	XP_011543770.1:p.Trp3061Ter
XM_017029328.1:c.9183G>A	XP_016884817.1:p.Trp3061Ter
XM_017029331.1:c.3357G>A	XP_016884820.1:p.Trp1119Ter
NM_000109.4:c.9159G>A	NP_000100.3:p.Trp3053Ter
NM_004006.3:c.9183G>A MANE Select	NP_003997.2:p.Trp3061Ter
NM_004011.4:c.5160G>A	NP_004002.3:p.Trp1720Ter
NM_004012.4:c.5151G>A	NP_004003.2:p.Trp1717Ter
NM_004021.3:c.1803G>A	NP_004012.2:p.Trp601Ter
NM_004023.3:c.1803G>A	NP_004014.2:p.Trp601Ter
NM_004013.3:c.1803G>A	NP_004004.2:p.Trp601Ter
NM_004014.3:c.996G>A	NP_004005.2:p.Trp332Ter
NM_004020.4:c.1803G>A	NP_004011.3:p.Trp601Ter
NM_004022.3:c.1803G>A	NP_004013.2:p.Trp601Ter