Canonical Allele Identifier: CA412659125

Gene: DMD

Linked Data

• ClinVar Variation Id: 1436112
• ClinVar RCV Id: RCV001987210
• dbSNP Id: rs1348131883
• gnomAD v3: X-31774154-C-G
• gnomAD v4: X-31774154-C-G
• MyVariant Identifiers: chrX:g.31792271C>G (hg19) ; chrX:g.31774154C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774154C>G , CM000685.2:g.31774154C>G	GRCh38
NC_000023.10:g.31792271C>G , CM000685.1:g.31792271C>G	GRCh37
NC_000023.9:g.31702192C>G	NCBI36
NG_012232.1:g.1570456G>C , LRG_199:g.1570456G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2194G>C	ENSP00000350765.3:p.Val732Leu
ENST00000682238.1:c.-33G>C	ENSP00000508124.1:n.-33G>C
ENST00000683117.1:n.1009G>C
ENST00000683450.1:n.931G>C
ENST00000683851.1:n.1009G>C
ENST00000683957.1:n.840G>C
ENST00000684130.1:c.-33G>C	ENSP00000508037.1:n.-33G>C
ENST00000357033.9:c.7348G>C MANE Select	ENSP00000354923.3:p.Val2450Leu
ENST00000619831.5:c.3316G>C	ENSP00000479270.2:p.Val1106Leu
ENST00000620040.5:c.-33G>C	ENSP00000478150.2:n.-33G>C
ENST00000680961.1:c.-33G>C	ENSP00000506386.1:n.-33G>C
ENST00000681646.1:n.1009G>C
ENST00000681839.1:c.337G>C	ENSP00000505228.1:p.Val113Leu
ENST00000357033.8:c.7348G>C	ENSP00000354923.3:p.Val2450Leu
ENST00000358062.6:c.436G>C	ENSP00000350765.2:p.Val146Leu
ENST00000359836.5:c.-33G>C	ENSP00000352894.1:n.-33G>C
ENST00000378677.6:c.7336G>C	ENSP00000367948.2:p.Val2446Leu
ENST00000378707.7:c.-33G>C	ENSP00000367979.3:n.-33G>C
ENST00000471779.1:c.105G>C	ENSP00000417075.1:n.105G>C
ENST00000474231.5:c.-33G>C	ENSP00000417123.1:n.-33G>C
ENST00000541735.5:c.-33G>C	ENSP00000444119.1:n.-33G>C
ENST00000619831.4:c.7333G>C	ENSP00000479270.1:p.Val2445Leu
ENST00000620040.4:c.7345G>C	ENSP00000478150.1:p.Val2449Leu
NM_000109.3:c.7324G>C	NP_000100.2:p.Val2442Leu
NM_004006.2:c.7348G>C , LRG_199t1:c.7348G>C	NP_003997.1:p.Val2450Leu
NM_004009.3:c.7336G>C	NP_004000.1:p.Val2446Leu
NM_004010.3:c.6979G>C	NP_004001.1:p.Val2327Leu
NM_004011.3:c.3325G>C	NP_004002.2:p.Val1109Leu
NM_004012.3:c.3316G>C	NP_004003.1:p.Val1106Leu
NM_004013.2:c.-33G>C	NP_004004.1:n.-33G>C
NM_004020.3:c.-33G>C	NP_004011.2:n.-33G>C
NM_004021.2:c.-33G>C	NP_004012.1:n.-33G>C
NM_004022.2:c.-33G>C	NP_004013.1:n.-33G>C
NM_004023.2:c.-33G>C	NP_004014.1:n.-33G>C
XM_006724468.2:c.7348G>C	XP_006724531.1:p.Val2450Leu
XM_006724469.2:c.7324G>C	XP_006724532.1:p.Val2442Leu
XM_006724470.2:c.7348G>C	XP_006724533.1:p.Val2450Leu
XM_006724471.2:c.7348G>C	XP_006724534.1:p.Val2450Leu
XM_006724472.2:c.7219G>C	XP_006724535.1:p.Val2407Leu
XM_006724473.2:c.7210G>C	XP_006724536.1:p.Val2404Leu
XM_006724474.2:c.7348G>C	XP_006724537.1:p.Val2450Leu
XM_006724475.2:c.7348G>C	XP_006724538.1:p.Val2450Leu
XM_011545467.1:c.7225G>C	XP_011543769.1:p.Val2409Leu
XM_011545468.1:c.7348G>C	XP_011543770.1:p.Val2450Leu
XM_006724469.3:c.7324G>C	XP_006724532.1:p.Val2442Leu
XM_006724470.3:c.7348G>C	XP_006724533.1:p.Val2450Leu
XM_006724474.3:c.7348G>C	XP_006724537.1:p.Val2450Leu
XM_011545468.2:c.7348G>C	XP_011543770.1:p.Val2450Leu
XM_017029328.1:c.7348G>C	XP_016884817.1:p.Val2450Leu
XM_017029331.1:c.1522G>C	XP_016884820.1:p.Val508Leu
NM_000109.4:c.7324G>C	NP_000100.3:p.Val2442Leu
NM_004006.3:c.7348G>C MANE Select	NP_003997.2:p.Val2450Leu
NM_004011.4:c.3325G>C	NP_004002.3:p.Val1109Leu
NM_004012.4:c.3316G>C	NP_004003.2:p.Val1106Leu
NM_004021.3:c.-33G>C	NP_004012.2:n.-33G>C
NM_004023.3:c.-33G>C	NP_004014.2:n.-33G>C
NM_004013.3:c.-33G>C	NP_004004.2:n.-33G>C
NM_004020.4:c.-33G>C	NP_004011.3:n.-33G>C
NM_004022.3:c.-33G>C	NP_004013.2:n.-33G>C