Canonical Allele Identifier: CA246864

Gene: DMD

Linked Data

• ClinVar Variation Id: 198302
• ClinVar RCV Id: RCV000179580 ; RCV000630569
• dbSNP Id: rs143925896
• ExAC: X:31462650 G / A
• gnomAD v2: X-31462650-G-A
• gnomAD v3: X-31444533-G-A
• gnomAD v4: X-31444533-G-A
• COSMIC: COSM3560889 ; COSM3560890 ; COSM3560891 ; COSM3560892 ; COSM3560893
• MyVariant Identifiers: chrX:g.31462650G>A (hg19) ; chrX:g.31444533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444533G>A , CM000685.2:g.31444533G>A	GRCh38
NC_000023.10:g.31462650G>A , CM000685.1:g.31462650G>A	GRCh37
NC_000023.9:g.31372571G>A	NCBI36
NG_012232.1:g.1900077C>T , LRG_199:g.1900077C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358062.7:c.3878C>T	ENSP00000350765.3:p.Pro1293Leu
ENST00000682238.1:c.1652C>T	ENSP00000508124.1:p.Pro551Leu
ENST00000683450.1:n.2497C>T
ENST00000683957.1:n.2524C>T
ENST00000684130.1:c.1652C>T	ENSP00000508037.1:p.Pro551Leu
ENST00000343523.7:c.887C>T	ENSP00000340057.4:p.Pro296Leu
ENST00000357033.9:c.9032C>T MANE Select	ENSP00000354923.3:p.Pro3011Leu
ENST00000619831.5:c.5000C>T	ENSP00000479270.2:p.Pro1667Leu
ENST00000620040.5:c.1652C>T	ENSP00000478150.2:p.Pro551Leu
ENST00000680961.1:c.1652C>T	ENSP00000506386.1:p.Pro551Leu
ENST00000681646.1:n.2693C>T
ENST00000343523.6:c.845C>T	ENSP00000340057.3:p.Pro282Leu
ENST00000357033.8:c.9032C>T	ENSP00000354923.3:p.Pro3011Leu
ENST00000358062.6:c.2120C>T	ENSP00000350765.2:p.Pro707Leu
ENST00000359836.5:c.1652C>T	ENSP00000352894.1:p.Pro551Leu
ENST00000378677.6:c.9020C>T	ENSP00000367948.2:p.Pro3007Leu
ENST00000378707.7:c.1652C>T	ENSP00000367979.3:p.Pro551Leu
ENST00000474231.5:c.1652C>T	ENSP00000417123.1:p.Pro551Leu
ENST00000541735.5:c.1652C>T	ENSP00000444119.1:p.Pro551Leu
ENST00000619831.4:c.9017C>T	ENSP00000479270.1:p.Pro3006Leu
ENST00000620040.4:c.9029C>T	ENSP00000478150.1:p.Pro3010Leu
NM_000109.3:c.9008C>T	NP_000100.2:p.Pro3003Leu
NM_004006.2:c.9032C>T , LRG_199t1:c.9032C>T	NP_003997.1:p.Pro3011Leu
NM_004009.3:c.9020C>T	NP_004000.1:p.Pro3007Leu
NM_004010.3:c.8663C>T	NP_004001.1:p.Pro2888Leu
NM_004011.3:c.5009C>T	NP_004002.2:p.Pro1670Leu
NM_004012.3:c.5000C>T	NP_004003.1:p.Pro1667Leu
NM_004013.2:c.1652C>T	NP_004004.1:p.Pro551Leu
NM_004014.2:c.845C>T	NP_004005.1:p.Pro282Leu
NM_004020.3:c.1652C>T	NP_004011.2:p.Pro551Leu
NM_004021.2:c.1652C>T	NP_004012.1:p.Pro551Leu
NM_004022.2:c.1652C>T	NP_004013.1:p.Pro551Leu
NM_004023.2:c.1652C>T	NP_004014.1:p.Pro551Leu
XM_006724468.2:c.9032C>T	XP_006724531.1:p.Pro3011Leu
XM_006724469.2:c.9008C>T	XP_006724532.1:p.Pro3003Leu
XM_006724470.2:c.9032C>T	XP_006724533.1:p.Pro3011Leu
XM_006724471.2:c.9032C>T	XP_006724534.1:p.Pro3011Leu
XM_006724472.2:c.8903C>T	XP_006724535.1:p.Pro2968Leu
XM_006724473.2:c.8894C>T	XP_006724536.1:p.Pro2965Leu
XM_006724474.2:c.9032C>T	XP_006724537.1:p.Pro3011Leu
XM_006724475.2:c.9032C>T	XP_006724538.1:p.Pro3011Leu
XM_011545467.1:c.8909C>T	XP_011543769.1:p.Pro2970Leu
XM_011545468.1:c.9032C>T	XP_011543770.1:p.Pro3011Leu
XM_006724469.3:c.9008C>T	XP_006724532.1:p.Pro3003Leu
XM_006724470.3:c.9032C>T	XP_006724533.1:p.Pro3011Leu
XM_006724474.3:c.9032C>T	XP_006724537.1:p.Pro3011Leu
XM_011545468.2:c.9032C>T	XP_011543770.1:p.Pro3011Leu
XM_017029328.1:c.9032C>T	XP_016884817.1:p.Pro3011Leu
XM_017029331.1:c.3206C>T	XP_016884820.1:p.Pro1069Leu
NM_000109.4:c.9008C>T	NP_000100.3:p.Pro3003Leu
NM_004006.3:c.9032C>T MANE Select	NP_003997.2:p.Pro3011Leu
NM_004011.4:c.5009C>T	NP_004002.3:p.Pro1670Leu
NM_004012.4:c.5000C>T	NP_004003.2:p.Pro1667Leu
NM_004021.3:c.1652C>T	NP_004012.2:p.Pro551Leu
NM_004023.3:c.1652C>T	NP_004014.2:p.Pro551Leu
NM_004013.3:c.1652C>T	NP_004004.2:p.Pro551Leu
NM_004014.3:c.845C>T	NP_004005.2:p.Pro282Leu
NM_004020.4:c.1652C>T	NP_004011.3:p.Pro551Leu
NM_004022.3:c.1652C>T	NP_004013.2:p.Pro551Leu