Canonical Allele Identifier: CA10377933

Gene: DMD

Linked Data

• ClinVar Variation Id: 1132903
• ClinVar RCV Id: RCV001467317
• dbSNP Id: rs780747093
• ExAC: X:31462642 G / A
• gnomAD v2: X-31462642-G-A
• gnomAD v4: X-31444525-G-A
• MyVariant Identifiers: chrX:g.31462642G>A (hg19) ; chrX:g.31444525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444525G>A , CM000685.2:g.31444525G>A	GRCh38
NC_000023.10:g.31462642G>A , CM000685.1:g.31462642G>A	GRCh37
NC_000023.9:g.31372563G>A	NCBI36
NG_012232.1:g.1900085C>T , LRG_199:g.1900085C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.3886C>T	ENSP00000350765.3:p.Leu1296Phe
ENST00000682238.1:c.1660C>T	ENSP00000508124.1:p.Leu554Phe
ENST00000683450.1:n.2505C>T
ENST00000683957.1:n.2532C>T
ENST00000684130.1:c.1660C>T	ENSP00000508037.1:p.Leu554Phe
ENST00000343523.7:c.895C>T	ENSP00000340057.4:p.Leu299Phe
ENST00000357033.9:c.9040C>T MANE Select	ENSP00000354923.3:p.Leu3014Phe
ENST00000619831.5:c.5008C>T	ENSP00000479270.2:p.Leu1670Phe
ENST00000620040.5:c.1660C>T	ENSP00000478150.2:p.Leu554Phe
ENST00000680961.1:c.1660C>T	ENSP00000506386.1:p.Leu554Phe
ENST00000681646.1:n.2701C>T
ENST00000343523.6:c.853C>T	ENSP00000340057.3:p.Leu285Phe
ENST00000357033.8:c.9040C>T	ENSP00000354923.3:p.Leu3014Phe
ENST00000358062.6:c.2128C>T	ENSP00000350765.2:p.Leu710Phe
ENST00000359836.5:c.1660C>T	ENSP00000352894.1:p.Leu554Phe
ENST00000378677.6:c.9028C>T	ENSP00000367948.2:p.Leu3010Phe
ENST00000378707.7:c.1660C>T	ENSP00000367979.3:p.Leu554Phe
ENST00000474231.5:c.1660C>T	ENSP00000417123.1:p.Leu554Phe
ENST00000541735.5:c.1660C>T	ENSP00000444119.1:p.Leu554Phe
ENST00000619831.4:c.9025C>T	ENSP00000479270.1:p.Leu3009Phe
ENST00000620040.4:c.9037C>T	ENSP00000478150.1:p.Leu3013Phe
NM_000109.3:c.9016C>T	NP_000100.2:p.Leu3006Phe
NM_004006.2:c.9040C>T , LRG_199t1:c.9040C>T	NP_003997.1:p.Leu3014Phe
NM_004009.3:c.9028C>T	NP_004000.1:p.Leu3010Phe
NM_004010.3:c.8671C>T	NP_004001.1:p.Leu2891Phe
NM_004011.3:c.5017C>T	NP_004002.2:p.Leu1673Phe
NM_004012.3:c.5008C>T	NP_004003.1:p.Leu1670Phe
NM_004013.2:c.1660C>T	NP_004004.1:p.Leu554Phe
NM_004014.2:c.853C>T	NP_004005.1:p.Leu285Phe
NM_004020.3:c.1660C>T	NP_004011.2:p.Leu554Phe
NM_004021.2:c.1660C>T	NP_004012.1:p.Leu554Phe
NM_004022.2:c.1660C>T	NP_004013.1:p.Leu554Phe
NM_004023.2:c.1660C>T	NP_004014.1:p.Leu554Phe
XM_006724468.2:c.9040C>T	XP_006724531.1:p.Leu3014Phe
XM_006724469.2:c.9016C>T	XP_006724532.1:p.Leu3006Phe
XM_006724470.2:c.9040C>T	XP_006724533.1:p.Leu3014Phe
XM_006724471.2:c.9040C>T	XP_006724534.1:p.Leu3014Phe
XM_006724472.2:c.8911C>T	XP_006724535.1:p.Leu2971Phe
XM_006724473.2:c.8902C>T	XP_006724536.1:p.Leu2968Phe
XM_006724474.2:c.9040C>T	XP_006724537.1:p.Leu3014Phe
XM_006724475.2:c.9040C>T	XP_006724538.1:p.Leu3014Phe
XM_011545467.1:c.8917C>T	XP_011543769.1:p.Leu2973Phe
XM_011545468.1:c.9040C>T	XP_011543770.1:p.Leu3014Phe
XM_006724469.3:c.9016C>T	XP_006724532.1:p.Leu3006Phe
XM_006724470.3:c.9040C>T	XP_006724533.1:p.Leu3014Phe
XM_006724474.3:c.9040C>T	XP_006724537.1:p.Leu3014Phe
XM_011545468.2:c.9040C>T	XP_011543770.1:p.Leu3014Phe
XM_017029328.1:c.9040C>T	XP_016884817.1:p.Leu3014Phe
XM_017029331.1:c.3214C>T	XP_016884820.1:p.Leu1072Phe
NM_000109.4:c.9016C>T	NP_000100.3:p.Leu3006Phe
NM_004006.3:c.9040C>T MANE Select	NP_003997.2:p.Leu3014Phe
NM_004011.4:c.5017C>T	NP_004002.3:p.Leu1673Phe
NM_004012.4:c.5008C>T	NP_004003.2:p.Leu1670Phe
NM_004021.3:c.1660C>T	NP_004012.2:p.Leu554Phe
NM_004023.3:c.1660C>T	NP_004014.2:p.Leu554Phe
NM_004013.3:c.1660C>T	NP_004004.2:p.Leu554Phe
NM_004014.3:c.853C>T	NP_004005.2:p.Leu285Phe
NM_004020.4:c.1660C>T	NP_004011.3:p.Leu554Phe
NM_004022.3:c.1660C>T	NP_004013.2:p.Leu554Phe