Canonical Allele Identifier: CA412659043

Gene: DMD

Linked Data

• ClinVar Variation Id: 2874182
• ClinVar RCV Id: RCV003623592
• MyVariant Identifiers: chrX:g.31792234G>T (hg19) ; chrX:g.31774117G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774117G>T , CM000685.2:g.31774117G>T	GRCh38
NC_000023.10:g.31792234G>T , CM000685.1:g.31792234G>T	GRCh37
NC_000023.9:g.31702155G>T	NCBI36
NG_012232.1:g.1570493C>A , LRG_199:g.1570493C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2231C>A	ENSP00000350765.3:p.Pro744Gln
ENST00000682238.1:c.5C>A	ENSP00000508124.1:p.Pro2Gln
ENST00000683117.1:n.1046C>A
ENST00000683450.1:n.968C>A
ENST00000683851.1:n.1046C>A
ENST00000683957.1:n.877C>A
ENST00000684130.1:c.5C>A	ENSP00000508037.1:p.Pro2Gln
ENST00000357033.9:c.7385C>A MANE Select	ENSP00000354923.3:p.Pro2462Gln
ENST00000619831.5:c.3353C>A	ENSP00000479270.2:p.Pro1118Gln
ENST00000620040.5:c.5C>A	ENSP00000478150.2:p.Pro2Gln
ENST00000680961.1:c.5C>A	ENSP00000506386.1:p.Pro2Gln
ENST00000681646.1:n.1046C>A
ENST00000681839.1:c.374C>A	ENSP00000505228.1:p.Pro125Gln
ENST00000357033.8:c.7385C>A	ENSP00000354923.3:p.Pro2462Gln
ENST00000358062.6:c.473C>A	ENSP00000350765.2:p.Pro158Gln
ENST00000359836.5:c.5C>A	ENSP00000352894.1:p.Pro2Gln
ENST00000378677.6:c.7373C>A	ENSP00000367948.2:p.Pro2458Gln
ENST00000378707.7:c.5C>A	ENSP00000367979.3:p.Pro2Gln
ENST00000471779.1:c.142C>A	ENSP00000417075.1:n.142C>A
ENST00000474231.5:c.5C>A	ENSP00000417123.1:p.Pro2Gln
ENST00000541735.5:c.5C>A	ENSP00000444119.1:p.Pro2Gln
ENST00000619831.4:c.7370C>A	ENSP00000479270.1:p.Pro2457Gln
ENST00000620040.4:c.7382C>A	ENSP00000478150.1:p.Pro2461Gln
NM_000109.3:c.7361C>A	NP_000100.2:p.Pro2454Gln
NM_004006.2:c.7385C>A , LRG_199t1:c.7385C>A	NP_003997.1:p.Pro2462Gln
NM_004009.3:c.7373C>A	NP_004000.1:p.Pro2458Gln
NM_004010.3:c.7016C>A	NP_004001.1:p.Pro2339Gln
NM_004011.3:c.3362C>A	NP_004002.2:p.Pro1121Gln
NM_004012.3:c.3353C>A	NP_004003.1:p.Pro1118Gln
NM_004013.2:c.5C>A	NP_004004.1:p.Pro2Gln
NM_004020.3:c.5C>A	NP_004011.2:p.Pro2Gln
NM_004021.2:c.5C>A	NP_004012.1:p.Pro2Gln
NM_004022.2:c.5C>A	NP_004013.1:p.Pro2Gln
NM_004023.2:c.5C>A	NP_004014.1:p.Pro2Gln
XM_006724468.2:c.7385C>A	XP_006724531.1:p.Pro2462Gln
XM_006724469.2:c.7361C>A	XP_006724532.1:p.Pro2454Gln
XM_006724470.2:c.7385C>A	XP_006724533.1:p.Pro2462Gln
XM_006724471.2:c.7385C>A	XP_006724534.1:p.Pro2462Gln
XM_006724472.2:c.7256C>A	XP_006724535.1:p.Pro2419Gln
XM_006724473.2:c.7247C>A	XP_006724536.1:p.Pro2416Gln
XM_006724474.2:c.7385C>A	XP_006724537.1:p.Pro2462Gln
XM_006724475.2:c.7385C>A	XP_006724538.1:p.Pro2462Gln
XM_011545467.1:c.7262C>A	XP_011543769.1:p.Pro2421Gln
XM_011545468.1:c.7385C>A	XP_011543770.1:p.Pro2462Gln
XM_006724469.3:c.7361C>A	XP_006724532.1:p.Pro2454Gln
XM_006724470.3:c.7385C>A	XP_006724533.1:p.Pro2462Gln
XM_006724474.3:c.7385C>A	XP_006724537.1:p.Pro2462Gln
XM_011545468.2:c.7385C>A	XP_011543770.1:p.Pro2462Gln
XM_017029328.1:c.7385C>A	XP_016884817.1:p.Pro2462Gln
XM_017029331.1:c.1559C>A	XP_016884820.1:p.Pro520Gln
NM_000109.4:c.7361C>A	NP_000100.3:p.Pro2454Gln
NM_004006.3:c.7385C>A MANE Select	NP_003997.2:p.Pro2462Gln
NM_004011.4:c.3362C>A	NP_004002.3:p.Pro1121Gln
NM_004012.4:c.3353C>A	NP_004003.2:p.Pro1118Gln
NM_004021.3:c.5C>A	NP_004012.2:p.Pro2Gln
NM_004023.3:c.5C>A	NP_004014.2:p.Pro2Gln
NM_004013.3:c.5C>A	NP_004004.2:p.Pro2Gln
NM_004020.4:c.5C>A	NP_004011.3:p.Pro2Gln
NM_004022.3:c.5C>A	NP_004013.2:p.Pro2Gln