Canonical Allele Identifier: CA412659011

Gene: DMD

Linked Data

• ClinVar Variation Id: 639544
• ClinVar RCV Id: RCV000792361
• dbSNP Id: rs1254776844
• MyVariant Identifiers: chrX:g.31792219A>T (hg19) ; chrX:g.31774102A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774102A>T , CM000685.2:g.31774102A>T	GRCh38
NC_000023.10:g.31792219A>T , CM000685.1:g.31792219A>T	GRCh37
NC_000023.9:g.31702140A>T	NCBI36
NG_012232.1:g.1570508T>A , LRG_199:g.1570508T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2246T>A	ENSP00000350765.3:p.Leu749Ter
ENST00000682238.1:c.20T>A	ENSP00000508124.1:p.Leu7Ter
ENST00000683117.1:n.1061T>A
ENST00000683450.1:n.983T>A
ENST00000683851.1:n.1061T>A
ENST00000683957.1:n.892T>A
ENST00000684130.1:c.20T>A	ENSP00000508037.1:p.Leu7Ter
ENST00000357033.9:c.7400T>A MANE Select	ENSP00000354923.3:p.Leu2467Ter
ENST00000619831.5:c.3368T>A	ENSP00000479270.2:p.Leu1123Ter
ENST00000620040.5:c.20T>A	ENSP00000478150.2:p.Leu7Ter
ENST00000680961.1:c.20T>A	ENSP00000506386.1:p.Leu7Ter
ENST00000681646.1:n.1061T>A
ENST00000681839.1:c.389T>A	ENSP00000505228.1:p.Leu130Ter
ENST00000357033.8:c.7400T>A	ENSP00000354923.3:p.Leu2467Ter
ENST00000358062.6:c.488T>A	ENSP00000350765.2:p.Leu163Ter
ENST00000359836.5:c.20T>A	ENSP00000352894.1:p.Leu7Ter
ENST00000378677.6:c.7388T>A	ENSP00000367948.2:p.Leu2463Ter
ENST00000378707.7:c.20T>A	ENSP00000367979.3:p.Leu7Ter
ENST00000471779.1:c.157T>A	ENSP00000417075.1:n.157T>A
ENST00000474231.5:c.20T>A	ENSP00000417123.1:p.Leu7Ter
ENST00000541735.5:c.20T>A	ENSP00000444119.1:p.Leu7Ter
ENST00000619831.4:c.7385T>A	ENSP00000479270.1:p.Leu2462Ter
ENST00000620040.4:c.7397T>A	ENSP00000478150.1:p.Leu2466Ter
NM_000109.3:c.7376T>A	NP_000100.2:p.Leu2459Ter
NM_004006.2:c.7400T>A , LRG_199t1:c.7400T>A	NP_003997.1:p.Leu2467Ter
NM_004009.3:c.7388T>A	NP_004000.1:p.Leu2463Ter
NM_004010.3:c.7031T>A	NP_004001.1:p.Leu2344Ter
NM_004011.3:c.3377T>A	NP_004002.2:p.Leu1126Ter
NM_004012.3:c.3368T>A	NP_004003.1:p.Leu1123Ter
NM_004013.2:c.20T>A	NP_004004.1:p.Leu7Ter
NM_004020.3:c.20T>A	NP_004011.2:p.Leu7Ter
NM_004021.2:c.20T>A	NP_004012.1:p.Leu7Ter
NM_004022.2:c.20T>A	NP_004013.1:p.Leu7Ter
NM_004023.2:c.20T>A	NP_004014.1:p.Leu7Ter
XM_006724468.2:c.7400T>A	XP_006724531.1:p.Leu2467Ter
XM_006724469.2:c.7376T>A	XP_006724532.1:p.Leu2459Ter
XM_006724470.2:c.7400T>A	XP_006724533.1:p.Leu2467Ter
XM_006724471.2:c.7400T>A	XP_006724534.1:p.Leu2467Ter
XM_006724472.2:c.7271T>A	XP_006724535.1:p.Leu2424Ter
XM_006724473.2:c.7262T>A	XP_006724536.1:p.Leu2421Ter
XM_006724474.2:c.7400T>A	XP_006724537.1:p.Leu2467Ter
XM_006724475.2:c.7400T>A	XP_006724538.1:p.Leu2467Ter
XM_011545467.1:c.7277T>A	XP_011543769.1:p.Leu2426Ter
XM_011545468.1:c.7400T>A	XP_011543770.1:p.Leu2467Ter
XM_006724469.3:c.7376T>A	XP_006724532.1:p.Leu2459Ter
XM_006724470.3:c.7400T>A	XP_006724533.1:p.Leu2467Ter
XM_006724474.3:c.7400T>A	XP_006724537.1:p.Leu2467Ter
XM_011545468.2:c.7400T>A	XP_011543770.1:p.Leu2467Ter
XM_017029328.1:c.7400T>A	XP_016884817.1:p.Leu2467Ter
XM_017029331.1:c.1574T>A	XP_016884820.1:p.Leu525Ter
NM_000109.4:c.7376T>A	NP_000100.3:p.Leu2459Ter
NM_004006.3:c.7400T>A MANE Select	NP_003997.2:p.Leu2467Ter
NM_004011.4:c.3377T>A	NP_004002.3:p.Leu1126Ter
NM_004012.4:c.3368T>A	NP_004003.2:p.Leu1123Ter
NM_004021.3:c.20T>A	NP_004012.2:p.Leu7Ter
NM_004023.3:c.20T>A	NP_004014.2:p.Leu7Ter
NM_004013.3:c.20T>A	NP_004004.2:p.Leu7Ter
NM_004020.4:c.20T>A	NP_004011.3:p.Leu7Ter
NM_004022.3:c.20T>A	NP_004013.2:p.Leu7Ter