Canonical Allele Identifier: CA267163

Gene: DMD

Linked Data

• ClinVar Variation Id: 94807
• ClinVar RCV Id: RCV000201168 ; RCV003389237
• dbSNP Id: rs398124072
• MyVariant Identifiers: chrX:g.31515009G>A (hg19) ; chrX:g.31496892G>A (hg38)
• PubMed: PMID:7611292

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31496892G>A , CM000685.2:g.31496892G>A	GRCh38
NC_000023.10:g.31515009G>A , CM000685.1:g.31515009G>A	GRCh37
NC_000023.9:g.31424930G>A	NCBI36
NG_012232.1:g.1847718C>T , LRG_199:g.1847718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.3289C>T	ENSP00000350765.3:p.Gln1097Ter
ENST00000682238.1:c.1063C>T	ENSP00000508124.1:p.Gln355Ter
ENST00000683450.1:n.1908C>T
ENST00000683957.1:n.1935C>T
ENST00000684130.1:c.1063C>T	ENSP00000508037.1:p.Gln355Ter
ENST00000343523.7:c.298C>T	ENSP00000340057.4:p.Gln100Ter
ENST00000357033.9:c.8443C>T MANE Select	ENSP00000354923.3:p.Gln2815Ter
ENST00000619831.5:c.4411C>T	ENSP00000479270.2:p.Gln1471Ter
ENST00000620040.5:c.1063C>T	ENSP00000478150.2:p.Gln355Ter
ENST00000680961.1:c.1063C>T	ENSP00000506386.1:p.Gln355Ter
ENST00000681646.1:n.2104C>T
ENST00000343523.6:c.256C>T	ENSP00000340057.3:p.Gln86Ter
ENST00000357033.8:c.8443C>T	ENSP00000354923.3:p.Gln2815Ter
ENST00000358062.6:c.1531C>T	ENSP00000350765.2:p.Gln511Ter
ENST00000359836.5:c.1063C>T	ENSP00000352894.1:p.Gln355Ter
ENST00000378677.6:c.8431C>T	ENSP00000367948.2:p.Gln2811Ter
ENST00000378707.7:c.1063C>T	ENSP00000367979.3:p.Gln355Ter
ENST00000445312.1:n.500C>T
ENST00000474231.5:c.1063C>T	ENSP00000417123.1:p.Gln355Ter
ENST00000541735.5:c.1063C>T	ENSP00000444119.1:p.Gln355Ter
ENST00000619831.4:c.8428C>T	ENSP00000479270.1:p.Gln2810Ter
ENST00000620040.4:c.8440C>T	ENSP00000478150.1:p.Gln2814Ter
NM_000109.3:c.8419C>T	NP_000100.2:p.Gln2807Ter
NM_004006.2:c.8443C>T , LRG_199t1:c.8443C>T	NP_003997.1:p.Gln2815Ter
NM_004009.3:c.8431C>T	NP_004000.1:p.Gln2811Ter
NM_004010.3:c.8074C>T	NP_004001.1:p.Gln2692Ter
NM_004011.3:c.4420C>T	NP_004002.2:p.Gln1474Ter
NM_004012.3:c.4411C>T	NP_004003.1:p.Gln1471Ter
NM_004013.2:c.1063C>T	NP_004004.1:p.Gln355Ter
NM_004014.2:c.256C>T	NP_004005.1:p.Gln86Ter
NM_004020.3:c.1063C>T	NP_004011.2:p.Gln355Ter
NM_004021.2:c.1063C>T	NP_004012.1:p.Gln355Ter
NM_004022.2:c.1063C>T	NP_004013.1:p.Gln355Ter
NM_004023.2:c.1063C>T	NP_004014.1:p.Gln355Ter
XM_006724468.2:c.8443C>T	XP_006724531.1:p.Gln2815Ter
XM_006724469.2:c.8419C>T	XP_006724532.1:p.Gln2807Ter
XM_006724470.2:c.8443C>T	XP_006724533.1:p.Gln2815Ter
XM_006724471.2:c.8443C>T	XP_006724534.1:p.Gln2815Ter
XM_006724472.2:c.8314C>T	XP_006724535.1:p.Gln2772Ter
XM_006724473.2:c.8305C>T	XP_006724536.1:p.Gln2769Ter
XM_006724474.2:c.8443C>T	XP_006724537.1:p.Gln2815Ter
XM_006724475.2:c.8443C>T	XP_006724538.1:p.Gln2815Ter
XM_011545467.1:c.8320C>T	XP_011543769.1:p.Gln2774Ter
XM_011545468.1:c.8443C>T	XP_011543770.1:p.Gln2815Ter
XM_006724469.3:c.8419C>T	XP_006724532.1:p.Gln2807Ter
XM_006724470.3:c.8443C>T	XP_006724533.1:p.Gln2815Ter
XM_006724474.3:c.8443C>T	XP_006724537.1:p.Gln2815Ter
XM_011545468.2:c.8443C>T	XP_011543770.1:p.Gln2815Ter
XM_017029328.1:c.8443C>T	XP_016884817.1:p.Gln2815Ter
XM_017029331.1:c.2617C>T	XP_016884820.1:p.Gln873Ter
NM_000109.4:c.8419C>T	NP_000100.3:p.Gln2807Ter
NM_004006.3:c.8443C>T MANE Select	NP_003997.2:p.Gln2815Ter
NM_004011.4:c.4420C>T	NP_004002.3:p.Gln1474Ter
NM_004012.4:c.4411C>T	NP_004003.2:p.Gln1471Ter
NM_004021.3:c.1063C>T	NP_004012.2:p.Gln355Ter
NM_004023.3:c.1063C>T	NP_004014.2:p.Gln355Ter
NM_004013.3:c.1063C>T	NP_004004.2:p.Gln355Ter
NM_004014.3:c.256C>T	NP_004005.2:p.Gln86Ter
NM_004020.4:c.1063C>T	NP_004011.3:p.Gln355Ter
NM_004022.3:c.1063C>T	NP_004013.2:p.Gln355Ter