Canonical Allele Identifier: CA412655154

Gene: DMD

Linked Data

• ClinVar Variation Id: 1413692
• ClinVar RCV Id: RCV001928240 ; RCV003382718
• dbSNP Id: rs2149075446
• gnomAD v4: X-31444540-G-T
• MyVariant Identifiers: chrX:g.31462657G>T (hg19) ; chrX:g.31444540G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31444540G>T , CM000685.2:g.31444540G>T	GRCh38
NC_000023.10:g.31462657G>T , CM000685.1:g.31462657G>T	GRCh37
NC_000023.9:g.31372578G>T	NCBI36
NG_012232.1:g.1900070C>A , LRG_199:g.1900070C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3871C>A	ENSP00000350765.3:p.Leu1291Ile
ENST00000682238.1:c.1645C>A	ENSP00000508124.1:p.Leu549Ile
ENST00000683450.1:n.2490C>A
ENST00000683957.1:n.2517C>A
ENST00000684130.1:c.1645C>A	ENSP00000508037.1:p.Leu549Ile
ENST00000343523.7:c.880C>A	ENSP00000340057.4:p.Leu294Ile
ENST00000357033.9:c.9025C>A MANE Select	ENSP00000354923.3:p.Leu3009Ile
ENST00000619831.5:c.4993C>A	ENSP00000479270.2:p.Leu1665Ile
ENST00000620040.5:c.1645C>A	ENSP00000478150.2:p.Leu549Ile
ENST00000680961.1:c.1645C>A	ENSP00000506386.1:p.Leu549Ile
ENST00000681646.1:n.2686C>A
ENST00000343523.6:c.838C>A	ENSP00000340057.3:p.Leu280Ile
ENST00000357033.8:c.9025C>A	ENSP00000354923.3:p.Leu3009Ile
ENST00000358062.6:c.2113C>A	ENSP00000350765.2:p.Leu705Ile
ENST00000359836.5:c.1645C>A	ENSP00000352894.1:p.Leu549Ile
ENST00000378677.6:c.9013C>A	ENSP00000367948.2:p.Leu3005Ile
ENST00000378707.7:c.1645C>A	ENSP00000367979.3:p.Leu549Ile
ENST00000474231.5:c.1645C>A	ENSP00000417123.1:p.Leu549Ile
ENST00000541735.5:c.1645C>A	ENSP00000444119.1:p.Leu549Ile
ENST00000619831.4:c.9010C>A	ENSP00000479270.1:p.Leu3004Ile
ENST00000620040.4:c.9022C>A	ENSP00000478150.1:p.Leu3008Ile
NM_000109.3:c.9001C>A	NP_000100.2:p.Leu3001Ile
NM_004006.2:c.9025C>A , LRG_199t1:c.9025C>A	NP_003997.1:p.Leu3009Ile
NM_004009.3:c.9013C>A	NP_004000.1:p.Leu3005Ile
NM_004010.3:c.8656C>A	NP_004001.1:p.Leu2886Ile
NM_004011.3:c.5002C>A	NP_004002.2:p.Leu1668Ile
NM_004012.3:c.4993C>A	NP_004003.1:p.Leu1665Ile
NM_004013.2:c.1645C>A	NP_004004.1:p.Leu549Ile
NM_004014.2:c.838C>A	NP_004005.1:p.Leu280Ile
NM_004020.3:c.1645C>A	NP_004011.2:p.Leu549Ile
NM_004021.2:c.1645C>A	NP_004012.1:p.Leu549Ile
NM_004022.2:c.1645C>A	NP_004013.1:p.Leu549Ile
NM_004023.2:c.1645C>A	NP_004014.1:p.Leu549Ile
XM_006724468.2:c.9025C>A	XP_006724531.1:p.Leu3009Ile
XM_006724469.2:c.9001C>A	XP_006724532.1:p.Leu3001Ile
XM_006724470.2:c.9025C>A	XP_006724533.1:p.Leu3009Ile
XM_006724471.2:c.9025C>A	XP_006724534.1:p.Leu3009Ile
XM_006724472.2:c.8896C>A	XP_006724535.1:p.Leu2966Ile
XM_006724473.2:c.8887C>A	XP_006724536.1:p.Leu2963Ile
XM_006724474.2:c.9025C>A	XP_006724537.1:p.Leu3009Ile
XM_006724475.2:c.9025C>A	XP_006724538.1:p.Leu3009Ile
XM_011545467.1:c.8902C>A	XP_011543769.1:p.Leu2968Ile
XM_011545468.1:c.9025C>A	XP_011543770.1:p.Leu3009Ile
XM_006724469.3:c.9001C>A	XP_006724532.1:p.Leu3001Ile
XM_006724470.3:c.9025C>A	XP_006724533.1:p.Leu3009Ile
XM_006724474.3:c.9025C>A	XP_006724537.1:p.Leu3009Ile
XM_011545468.2:c.9025C>A	XP_011543770.1:p.Leu3009Ile
XM_017029328.1:c.9025C>A	XP_016884817.1:p.Leu3009Ile
XM_017029331.1:c.3199C>A	XP_016884820.1:p.Leu1067Ile
NM_000109.4:c.9001C>A	NP_000100.3:p.Leu3001Ile
NM_004006.3:c.9025C>A MANE Select	NP_003997.2:p.Leu3009Ile
NM_004011.4:c.5002C>A	NP_004002.3:p.Leu1668Ile
NM_004012.4:c.4993C>A	NP_004003.2:p.Leu1665Ile
NM_004021.3:c.1645C>A	NP_004012.2:p.Leu549Ile
NM_004023.3:c.1645C>A	NP_004014.2:p.Leu549Ile
NM_004013.3:c.1645C>A	NP_004004.2:p.Leu549Ile
NM_004014.3:c.838C>A	NP_004005.2:p.Leu280Ile
NM_004020.4:c.1645C>A	NP_004011.3:p.Leu549Ile
NM_004022.3:c.1645C>A	NP_004013.2:p.Leu549Ile