Canonical Allele Identifier: CA412658597

Gene: DMD

Linked Data

• ClinVar Variation Id: 567722
• ClinVar RCV Id: RCV000687887
• dbSNP Id: rs1569386546
• MyVariant Identifiers: chrX:g.31792081T>G (hg19) ; chrX:g.31773964T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31773964T>G , CM000685.2:g.31773964T>G	GRCh38
NC_000023.10:g.31792081T>G , CM000685.1:g.31792081T>G	GRCh37
NC_000023.9:g.31702002T>G	NCBI36
NG_012232.1:g.1570646A>C , LRG_199:g.1570646A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2384A>C	ENSP00000350765.3:p.Gln795Pro
ENST00000682238.1:c.158A>C	ENSP00000508124.1:p.Gln53Pro
ENST00000683117.1:n.1199A>C
ENST00000683450.1:n.1121A>C
ENST00000683851.1:n.1199A>C
ENST00000683957.1:n.1030A>C
ENST00000684130.1:c.158A>C	ENSP00000508037.1:p.Gln53Pro
ENST00000357033.9:c.7538A>C MANE Select	ENSP00000354923.3:p.Gln2513Pro
ENST00000619831.5:c.3506A>C	ENSP00000479270.2:p.Gln1169Pro
ENST00000620040.5:c.158A>C	ENSP00000478150.2:p.Gln53Pro
ENST00000680961.1:c.158A>C	ENSP00000506386.1:p.Gln53Pro
ENST00000681646.1:n.1199A>C
ENST00000681839.1:c.527A>C	ENSP00000505228.1:p.Gln176Pro
ENST00000357033.8:c.7538A>C	ENSP00000354923.3:p.Gln2513Pro
ENST00000358062.6:c.626A>C	ENSP00000350765.2:p.Gln209Pro
ENST00000359836.5:c.158A>C	ENSP00000352894.1:p.Gln53Pro
ENST00000378677.6:c.7526A>C	ENSP00000367948.2:p.Gln2509Pro
ENST00000378707.7:c.158A>C	ENSP00000367979.3:p.Gln53Pro
ENST00000471779.1:c.295A>C	ENSP00000417075.1:n.295A>C
ENST00000474231.5:c.158A>C	ENSP00000417123.1:p.Gln53Pro
ENST00000541735.5:c.158A>C	ENSP00000444119.1:p.Gln53Pro
ENST00000619831.4:c.7523A>C	ENSP00000479270.1:p.Gln2508Pro
ENST00000620040.4:c.7535A>C	ENSP00000478150.1:p.Gln2512Pro
NM_000109.3:c.7514A>C	NP_000100.2:p.Gln2505Pro
NM_004006.2:c.7538A>C , LRG_199t1:c.7538A>C	NP_003997.1:p.Gln2513Pro
NM_004009.3:c.7526A>C	NP_004000.1:p.Gln2509Pro
NM_004010.3:c.7169A>C	NP_004001.1:p.Gln2390Pro
NM_004011.3:c.3515A>C	NP_004002.2:p.Gln1172Pro
NM_004012.3:c.3506A>C	NP_004003.1:p.Gln1169Pro
NM_004013.2:c.158A>C	NP_004004.1:p.Gln53Pro
NM_004020.3:c.158A>C	NP_004011.2:p.Gln53Pro
NM_004021.2:c.158A>C	NP_004012.1:p.Gln53Pro
NM_004022.2:c.158A>C	NP_004013.1:p.Gln53Pro
NM_004023.2:c.158A>C	NP_004014.1:p.Gln53Pro
XM_006724468.2:c.7538A>C	XP_006724531.1:p.Gln2513Pro
XM_006724469.2:c.7514A>C	XP_006724532.1:p.Gln2505Pro
XM_006724470.2:c.7538A>C	XP_006724533.1:p.Gln2513Pro
XM_006724471.2:c.7538A>C	XP_006724534.1:p.Gln2513Pro
XM_006724472.2:c.7409A>C	XP_006724535.1:p.Gln2470Pro
XM_006724473.2:c.7400A>C	XP_006724536.1:p.Gln2467Pro
XM_006724474.2:c.7538A>C	XP_006724537.1:p.Gln2513Pro
XM_006724475.2:c.7538A>C	XP_006724538.1:p.Gln2513Pro
XM_011545467.1:c.7415A>C	XP_011543769.1:p.Gln2472Pro
XM_011545468.1:c.7538A>C	XP_011543770.1:p.Gln2513Pro
XM_006724469.3:c.7514A>C	XP_006724532.1:p.Gln2505Pro
XM_006724470.3:c.7538A>C	XP_006724533.1:p.Gln2513Pro
XM_006724474.3:c.7538A>C	XP_006724537.1:p.Gln2513Pro
XM_011545468.2:c.7538A>C	XP_011543770.1:p.Gln2513Pro
XM_017029328.1:c.7538A>C	XP_016884817.1:p.Gln2513Pro
XM_017029331.1:c.1712A>C	XP_016884820.1:p.Gln571Pro
NM_000109.4:c.7514A>C	NP_000100.3:p.Gln2505Pro
NM_004006.3:c.7538A>C MANE Select	NP_003997.2:p.Gln2513Pro
NM_004011.4:c.3515A>C	NP_004002.3:p.Gln1172Pro
NM_004012.4:c.3506A>C	NP_004003.2:p.Gln1169Pro
NM_004021.3:c.158A>C	NP_004012.2:p.Gln53Pro
NM_004023.3:c.158A>C	NP_004014.2:p.Gln53Pro
NM_004013.3:c.158A>C	NP_004004.2:p.Gln53Pro
NM_004020.4:c.158A>C	NP_004011.3:p.Gln53Pro
NM_004022.3:c.158A>C	NP_004013.2:p.Gln53Pro