Canonical Allele Identifier: CA5726948
Gene: DMBT1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122589001G>A , CM000672.2:g.122589001G>A GRCh38
NC_000010.10:g.124348517G>A , CM000672.1:g.124348517G>A GRCh37
NC_000010.9:g.124338507G>A NCBI36
NG_012644.1:g.33337G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338354.10:c.1841G>A MANE Select ENSP00000342210.4:p.Arg614Gln
ENST00000652446.2:c.1841G>A ENSP00000498825.1:p.Arg614Gln
ENST00000653442.1:c.1841G>A ENSP00000499436.1:p.Arg614Gln
ENST00000657942.1:c.637+8106G>A ENSP00000499391.1:n.637+8106G>A
ENST00000664692.1:c.1811G>A ENSP00000499397.1:p.Arg604Gln
ENST00000664974.1:c.1034-5495G>A ENSP00000499641.1:n.1034-5495G>A
ENST00000666315.1:c.1841G>A ENSP00000499304.1:p.Arg614Gln
ENST00000330163.8:c.1034-5495G>A ENSP00000327747.4:n.1034-5495G>A
ENST00000338354.7:c.1841G>A ENSP00000342210.3:p.Arg614Gln
ENST00000344338.7:c.1811G>A ENSP00000343175.3:p.Arg604Gln
ENST00000359586.10:c.670+7176G>A ENSP00000352593.6:n.670+7176G>A
ENST00000368909.7:c.1841G>A ENSP00000357905.3:p.Arg614Gln
ENST00000368955.7:c.1811G>A ENSP00000357951.3:p.Arg604Gln
ENST00000368956.6:c.1420+4650G>A ENSP00000357952.2:n.1420+4650G>A
ENST00000619379.1:c.1841G>A ENSP00000484603.1:p.Arg614Gln
NM_004406.2:c.1420+4650G>A NP_004397.2:n.1420+4650G>A
NM_007329.2:c.1841G>A NP_015568.2:p.Arg614Gln
NM_017579.2:c.1811G>A NP_060049.2:p.Arg604Gln
XM_006717660.2:c.1793G>A XP_006717723.1:p.Arg598Gln
XM_006717665.2:c.1745G>A XP_006717728.1:p.Arg582Gln
XM_011539388.1:c.1841G>A XP_011537690.1:p.Arg614Gln
XM_011539389.1:c.1841G>A XP_011537691.1:p.Arg614Gln
XM_011539390.1:c.1841G>A XP_011537692.1:p.Arg614Gln
XM_011539391.1:c.1811G>A XP_011537693.1:p.Arg604Gln
XM_011539392.1:c.1841G>A XP_011537694.1:p.Arg614Gln
XM_011539393.1:c.1841G>A XP_011537695.1:p.Arg614Gln
XM_011539394.1:c.1841G>A XP_011537696.1:p.Arg614Gln
XM_011539395.1:c.1841G>A XP_011537697.1:p.Arg614Gln
XM_011539396.1:c.1793G>A XP_011537698.1:p.Arg598Gln
XM_011539397.1:c.1841G>A XP_011537699.1:p.Arg614Gln
XM_011539398.1:c.1778G>A XP_011537700.1:p.Arg593Gln
XM_011539399.1:c.1745G>A XP_011537701.1:p.Arg582Gln
XM_011539400.1:c.1784-1664G>A XP_011537702.1:n.1784-1664G>A
XM_011539401.1:c.1841G>A XP_011537703.1:p.Arg614Gln
XM_011539402.1:c.1454G>A XP_011537704.1:p.Arg485Gln
XM_011539403.1:c.1841G>A XP_011537705.1:p.Arg614Gln
XM_011539404.1:c.1841G>A XP_011537706.1:p.Arg614Gln
XM_011539405.1:c.1841G>A XP_011537707.1:p.Arg614Gln
XM_011539406.1:c.1841G>A XP_011537708.1:p.Arg614Gln
XM_011539407.1:c.1841G>A XP_011537709.1:p.Arg614Gln
XM_011539408.1:c.1448G>A XP_011537710.1:p.Arg483Gln
XM_011539409.1:c.1841G>A XP_011537711.1:p.Arg614Gln
XM_011539410.1:c.1841G>A XP_011537712.1:p.Arg614Gln
XM_011539411.1:c.1841G>A XP_011537713.1:p.Arg614Gln
XM_011539412.1:c.1424G>A XP_011537714.1:p.Arg475Gln
XM_011539413.1:c.1841G>A XP_011537715.1:p.Arg614Gln
XM_011539414.1:c.1033+8106G>A XP_011537716.1:n.1033+8106G>A
XM_011539415.1:c.1841G>A XP_011537717.1:p.Arg614Gln
XR_946388.1:n.1348-778C>T
NM_001320644.1:c.1841G>A NP_001307573.1:p.Arg614Gln
XM_006717660.3:c.1793G>A XP_006717723.1:p.Arg598Gln
XM_006717665.3:c.1745G>A XP_006717728.1:p.Arg582Gln
XM_011539388.3:c.1841G>A XP_011537690.1:p.Arg614Gln
XM_011539389.3:c.1841G>A XP_011537691.1:p.Arg614Gln
XM_011539390.3:c.1841G>A XP_011537692.1:p.Arg614Gln
XM_011539391.3:c.1811G>A XP_011537693.1:p.Arg604Gln
XM_011539392.3:c.1841G>A XP_011537694.1:p.Arg614Gln
XM_011539393.3:c.1841G>A XP_011537695.1:p.Arg614Gln
XM_011539394.3:c.1841G>A XP_011537696.1:p.Arg614Gln
XM_011539395.3:c.1841G>A XP_011537697.1:p.Arg614Gln
XM_011539396.2:c.1793G>A XP_011537698.1:p.Arg598Gln
XM_011539398.3:c.1778G>A XP_011537700.1:p.Arg593Gln
XM_011539399.2:c.1745G>A XP_011537701.1:p.Arg582Gln
XM_011539400.3:c.1784-1664G>A XP_011537702.1:n.1784-1664G>A
XM_011539401.3:c.1841G>A XP_011537703.1:p.Arg614Gln
XM_011539402.3:c.1454G>A XP_011537704.1:p.Arg485Gln
XM_011539403.3:c.1841G>A XP_011537705.1:p.Arg614Gln
XM_011539405.3:c.1841G>A XP_011537707.1:p.Arg614Gln
XM_011539407.3:c.1841G>A XP_011537709.1:p.Arg614Gln
XM_011539408.3:c.1448G>A XP_011537710.1:p.Arg483Gln
XM_011539409.3:c.1841G>A XP_011537711.1:p.Arg614Gln
XM_011539410.3:c.1841G>A XP_011537712.1:p.Arg614Gln
XM_011539411.3:c.1841G>A XP_011537713.1:p.Arg614Gln
XM_011539413.3:c.1841G>A XP_011537715.1:p.Arg614Gln
XM_011539414.3:c.1033+8106G>A XP_011537716.1:n.1033+8106G>A
XM_011539415.3:c.1841G>A XP_011537717.1:p.Arg614Gln
XM_017015798.1:c.185G>A XP_016871287.1:p.Arg62Gln
XM_024447854.1:c.1841G>A XP_024303622.1:p.Arg614Gln
NM_001320644.2:c.1841G>A NP_001307573.1:p.Arg614Gln
NM_001377530.1:c.1841G>A MANE Select NP_001364459.1:p.Arg614Gln
NM_004406.3:c.1420+4650G>A NP_004397.2:n.1420+4650G>A
NM_007329.3:c.1841G>A NP_015568.2:p.Arg614Gln
NM_017579.3:c.1811G>A NP_060049.2:p.Arg604Gln