Canonical Allele Identifier: CA412658785

Gene: DMD

Linked Data

• gnomAD v4: X-31774006-A-G
• MyVariant Identifiers: chrX:g.31792123A>G (hg19) ; chrX:g.31774006A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31774006A>G , CM000685.2:g.31774006A>G	GRCh38
NC_000023.10:g.31792123A>G , CM000685.1:g.31792123A>G	GRCh37
NC_000023.9:g.31702044A>G	NCBI36
NG_012232.1:g.1570604T>C , LRG_199:g.1570604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.2342T>C	ENSP00000350765.3:p.Met781Thr
ENST00000682238.1:c.116T>C	ENSP00000508124.1:p.Met39Thr
ENST00000683117.1:n.1157T>C
ENST00000683450.1:n.1079T>C
ENST00000683851.1:n.1157T>C
ENST00000683957.1:n.988T>C
ENST00000684130.1:c.116T>C	ENSP00000508037.1:p.Met39Thr
ENST00000357033.9:c.7496T>C MANE Select	ENSP00000354923.3:p.Met2499Thr
ENST00000619831.5:c.3464T>C	ENSP00000479270.2:p.Met1155Thr
ENST00000620040.5:c.116T>C	ENSP00000478150.2:p.Met39Thr
ENST00000680961.1:c.116T>C	ENSP00000506386.1:p.Met39Thr
ENST00000681646.1:n.1157T>C
ENST00000681839.1:c.485T>C	ENSP00000505228.1:p.Met162Thr
ENST00000357033.8:c.7496T>C	ENSP00000354923.3:p.Met2499Thr
ENST00000358062.6:c.584T>C	ENSP00000350765.2:p.Met195Thr
ENST00000359836.5:c.116T>C	ENSP00000352894.1:p.Met39Thr
ENST00000378677.6:c.7484T>C	ENSP00000367948.2:p.Met2495Thr
ENST00000378707.7:c.116T>C	ENSP00000367979.3:p.Met39Thr
ENST00000471779.1:c.253T>C	ENSP00000417075.1:n.253T>C
ENST00000474231.5:c.116T>C	ENSP00000417123.1:p.Met39Thr
ENST00000541735.5:c.116T>C	ENSP00000444119.1:p.Met39Thr
ENST00000619831.4:c.7481T>C	ENSP00000479270.1:p.Met2494Thr
ENST00000620040.4:c.7493T>C	ENSP00000478150.1:p.Met2498Thr
NM_000109.3:c.7472T>C	NP_000100.2:p.Met2491Thr
NM_004006.2:c.7496T>C , LRG_199t1:c.7496T>C	NP_003997.1:p.Met2499Thr
NM_004009.3:c.7484T>C	NP_004000.1:p.Met2495Thr
NM_004010.3:c.7127T>C	NP_004001.1:p.Met2376Thr
NM_004011.3:c.3473T>C	NP_004002.2:p.Met1158Thr
NM_004012.3:c.3464T>C	NP_004003.1:p.Met1155Thr
NM_004013.2:c.116T>C	NP_004004.1:p.Met39Thr
NM_004020.3:c.116T>C	NP_004011.2:p.Met39Thr
NM_004021.2:c.116T>C	NP_004012.1:p.Met39Thr
NM_004022.2:c.116T>C	NP_004013.1:p.Met39Thr
NM_004023.2:c.116T>C	NP_004014.1:p.Met39Thr
XM_006724468.2:c.7496T>C	XP_006724531.1:p.Met2499Thr
XM_006724469.2:c.7472T>C	XP_006724532.1:p.Met2491Thr
XM_006724470.2:c.7496T>C	XP_006724533.1:p.Met2499Thr
XM_006724471.2:c.7496T>C	XP_006724534.1:p.Met2499Thr
XM_006724472.2:c.7367T>C	XP_006724535.1:p.Met2456Thr
XM_006724473.2:c.7358T>C	XP_006724536.1:p.Met2453Thr
XM_006724474.2:c.7496T>C	XP_006724537.1:p.Met2499Thr
XM_006724475.2:c.7496T>C	XP_006724538.1:p.Met2499Thr
XM_011545467.1:c.7373T>C	XP_011543769.1:p.Met2458Thr
XM_011545468.1:c.7496T>C	XP_011543770.1:p.Met2499Thr
XM_006724469.3:c.7472T>C	XP_006724532.1:p.Met2491Thr
XM_006724470.3:c.7496T>C	XP_006724533.1:p.Met2499Thr
XM_006724474.3:c.7496T>C	XP_006724537.1:p.Met2499Thr
XM_011545468.2:c.7496T>C	XP_011543770.1:p.Met2499Thr
XM_017029328.1:c.7496T>C	XP_016884817.1:p.Met2499Thr
XM_017029331.1:c.1670T>C	XP_016884820.1:p.Met557Thr
NM_000109.4:c.7472T>C	NP_000100.3:p.Met2491Thr
NM_004006.3:c.7496T>C MANE Select	NP_003997.2:p.Met2499Thr
NM_004011.4:c.3473T>C	NP_004002.3:p.Met1158Thr
NM_004012.4:c.3464T>C	NP_004003.2:p.Met1155Thr
NM_004021.3:c.116T>C	NP_004012.2:p.Met39Thr
NM_004023.3:c.116T>C	NP_004014.2:p.Met39Thr
NM_004013.3:c.116T>C	NP_004004.2:p.Met39Thr
NM_004020.4:c.116T>C	NP_004011.3:p.Met39Thr
NM_004022.3:c.116T>C	NP_004013.2:p.Met39Thr