Canonical Allele Identifier: CA412673460

Gene: DMD

Linked Data

• ClinVar Variation Id: 618597
• ClinVar RCV Id: RCV000757163 ; RCV002536566
• dbSNP Id: rs1569230293
• COSMIC: COSM4430117 ; COSM4430118 ; COSM4430119
• MyVariant Identifiers: chrX:g.32591928C>T (hg19) ; chrX:g.32573811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32573811C>T , CM000685.2:g.32573811C>T	GRCh38
NC_000023.10:g.32591928C>T , CM000685.1:g.32591928C>T	GRCh37
NC_000023.9:g.32501849C>T	NCBI36
NG_012232.1:g.770799G>A , LRG_199:g.770799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682071.1:c.1269G>A	ENSP00000508133.1:p.Trp423Ter
ENST00000682899.1:n.1845G>A
ENST00000682924.1:c.*137G>A	ENSP00000508187.1:n.*137G>A
ENST00000683985.1:n.1845G>A
ENST00000684165.1:n.1845G>A
ENST00000684292.1:n.1845G>A
ENST00000288447.9:c.1614G>A	ENSP00000288447.4:p.Trp538Ter
ENST00000357033.9:c.1638G>A MANE Select	ENSP00000354923.3:p.Trp546Ter
ENST00000288447.8:c.1614G>A	ENSP00000288447.4:p.Trp538Ter
ENST00000357033.8:c.1638G>A	ENSP00000354923.3:p.Trp546Ter
ENST00000378677.6:c.1626G>A	ENSP00000367948.2:p.Trp542Ter
ENST00000420596.5:c.94-208612G>A	ENSP00000399897.1:n.94-208612G>A
ENST00000447523.1:c.282G>A	ENSP00000395904.1:p.Trp94Ter
ENST00000448370.5:c.94-209101G>A	ENSP00000388559.1:n.94-209101G>A
ENST00000480751.1:n.122G>A
ENST00000488902.5:n.336-356748G>A
ENST00000619831.4:c.1626G>A	ENSP00000479270.1:p.Trp542Ter
ENST00000620040.4:c.1638G>A	ENSP00000478150.1:p.Trp546Ter
NM_000109.3:c.1614G>A	NP_000100.2:p.Trp538Ter
NM_004006.2:c.1638G>A , LRG_199t1:c.1638G>A	NP_003997.1:p.Trp546Ter
NM_004009.3:c.1626G>A	NP_004000.1:p.Trp542Ter
NM_004010.3:c.1269G>A	NP_004001.1:p.Trp423Ter
XM_006724468.2:c.1638G>A	XP_006724531.1:p.Trp546Ter
XM_006724469.2:c.1614G>A	XP_006724532.1:p.Trp538Ter
XM_006724470.2:c.1638G>A	XP_006724533.1:p.Trp546Ter
XM_006724471.2:c.1638G>A	XP_006724534.1:p.Trp546Ter
XM_006724472.2:c.1509G>A	XP_006724535.1:p.Trp503Ter
XM_006724473.2:c.1638G>A	XP_006724536.1:p.Trp546Ter
XM_006724474.2:c.1638G>A	XP_006724537.1:p.Trp546Ter
XM_006724475.2:c.1638G>A	XP_006724538.1:p.Trp546Ter
XM_011545467.1:c.1638G>A	XP_011543769.1:p.Trp546Ter
XM_011545468.1:c.1638G>A	XP_011543770.1:p.Trp546Ter
XM_011545469.1:c.1638G>A	XP_011543771.1:p.Trp546Ter
XM_006724469.3:c.1614G>A	XP_006724532.1:p.Trp538Ter
XM_006724470.3:c.1638G>A	XP_006724533.1:p.Trp546Ter
XM_006724474.3:c.1638G>A	XP_006724537.1:p.Trp546Ter
XM_011545468.2:c.1638G>A	XP_011543770.1:p.Trp546Ter
XM_017029328.1:c.1638G>A	XP_016884817.1:p.Trp546Ter
XM_017029329.1:c.1638G>A	XP_016884818.1:p.Trp546Ter
XM_017029330.2:c.1638G>A	XP_016884819.1:p.Trp546Ter
NM_000109.4:c.1614G>A	NP_000100.3:p.Trp538Ter
NM_004006.3:c.1638G>A MANE Select	NP_003997.2:p.Trp546Ter