Canonical Allele Identifier: CA412656634

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31679414A>T , CM000685.2:g.31679414A>T	GRCh38
NC_000023.10:g.31697531A>T , CM000685.1:g.31697531A>T	GRCh37
NC_000023.9:g.31607452A>T	NCBI36
NG_012232.1:g.1665196T>A , LRG_199:g.1665196T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.7833T>A MANE Select	NP_003997.2:p.Tyr2611Ter
ENST00000357033.9:c.7833T>A MANE Select	ENSP00000354923.3:p.Tyr2611Ter
NM_000109.3:c.7809T>A	NP_000100.2:p.Tyr2603Ter
NM_000109.4:c.7809T>A	NP_000100.3:p.Tyr2603Ter
NM_004006.2:c.7833T>A , LRG_199t1:c.7833T>A	NP_003997.1:p.Tyr2611Ter
NM_004009.3:c.7821T>A	NP_004000.1:p.Tyr2607Ter
NM_004010.3:c.7464T>A	NP_004001.1:p.Tyr2488Ter
NM_004011.3:c.3810T>A	NP_004002.2:p.Tyr1270Ter
NM_004011.4:c.3810T>A	NP_004002.3:p.Tyr1270Ter
NM_004012.3:c.3801T>A	NP_004003.1:p.Tyr1267Ter
NM_004012.4:c.3801T>A	NP_004003.2:p.Tyr1267Ter
NM_004013.2:c.453T>A	NP_004004.1:p.Tyr151Ter
NM_004013.3:c.453T>A	NP_004004.2:p.Tyr151Ter
NM_004020.3:c.453T>A	NP_004011.2:p.Tyr151Ter
NM_004020.4:c.453T>A	NP_004011.3:p.Tyr151Ter
NM_004021.2:c.453T>A	NP_004012.1:p.Tyr151Ter
NM_004021.3:c.453T>A	NP_004012.2:p.Tyr151Ter
NM_004022.2:c.453T>A	NP_004013.1:p.Tyr151Ter
NM_004022.3:c.453T>A	NP_004013.2:p.Tyr151Ter
NM_004023.2:c.453T>A	NP_004014.1:p.Tyr151Ter
NM_004023.3:c.453T>A	NP_004014.2:p.Tyr151Ter
ENST00000357033.8:c.7833T>A	ENSP00000354923.3:p.Tyr2611Ter
ENST00000358062.6:c.921T>A	ENSP00000350765.2:p.Tyr307Ter
ENST00000358062.7:c.2679T>A	ENSP00000350765.3:p.Tyr893Ter
ENST00000359836.5:c.453T>A	ENSP00000352894.1:p.Tyr151Ter
ENST00000378677.6:c.7821T>A	ENSP00000367948.2:p.Tyr2607Ter
ENST00000378707.7:c.453T>A	ENSP00000367979.3:p.Tyr151Ter
ENST00000474231.5:c.453T>A	ENSP00000417123.1:p.Tyr151Ter
ENST00000541735.5:c.453T>A	ENSP00000444119.1:p.Tyr151Ter
ENST00000619831.4:c.7818T>A	ENSP00000479270.1:p.Tyr2606Ter
ENST00000619831.5:c.3801T>A	ENSP00000479270.2:p.Tyr1267Ter
ENST00000620040.4:c.7830T>A	ENSP00000478150.1:p.Tyr2610Ter
ENST00000620040.5:c.453T>A	ENSP00000478150.2:p.Tyr151Ter
ENST00000680961.1:c.453T>A	ENSP00000506386.1:p.Tyr151Ter
ENST00000681646.1:n.1494T>A
ENST00000681839.1:c.822T>A	ENSP00000505228.1:p.Tyr274Ter
ENST00000682238.1:c.453T>A	ENSP00000508124.1:p.Tyr151Ter
ENST00000683117.1:n.1494T>A
ENST00000683450.1:n.1298T>A
ENST00000683851.1:n.1494T>A
ENST00000683957.1:n.1325T>A
ENST00000684130.1:c.453T>A	ENSP00000508037.1:p.Tyr151Ter
XM_006724468.2:c.7833T>A	XP_006724531.1:p.Tyr2611Ter
XM_006724469.2:c.7809T>A	XP_006724532.1:p.Tyr2603Ter
XM_006724469.3:c.7809T>A	XP_006724532.1:p.Tyr2603Ter
XM_006724470.2:c.7833T>A	XP_006724533.1:p.Tyr2611Ter
XM_006724470.3:c.7833T>A	XP_006724533.1:p.Tyr2611Ter
XM_006724471.2:c.7833T>A	XP_006724534.1:p.Tyr2611Ter
XM_006724472.2:c.7704T>A	XP_006724535.1:p.Tyr2568Ter
XM_006724473.2:c.7695T>A	XP_006724536.1:p.Tyr2565Ter
XM_006724474.2:c.7833T>A	XP_006724537.1:p.Tyr2611Ter
XM_006724474.3:c.7833T>A	XP_006724537.1:p.Tyr2611Ter
XM_006724475.2:c.7833T>A	XP_006724538.1:p.Tyr2611Ter
XM_011545467.1:c.7710T>A	XP_011543769.1:p.Tyr2570Ter
XM_011545468.1:c.7833T>A	XP_011543770.1:p.Tyr2611Ter
XM_011545468.2:c.7833T>A	XP_011543770.1:p.Tyr2611Ter
XM_017029328.1:c.7833T>A	XP_016884817.1:p.Tyr2611Ter
XM_017029331.1:c.2007T>A	XP_016884820.1:p.Tyr669Ter