Canonical Allele Identifier: CA215128673

Gene: DMBT1

Linked Data

• ClinVar Variation Id: 1444036
• ClinVar RCV Id: RCV001981598 ; RCV004043667
• dbSNP Id: rs1014613149
• gnomAD v4: 10-122589247-A-T
• MyVariant Identifiers: chr10:g.124348763A>T (hg19) ; chr10:g.122589247A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122589247A>T , CM000672.2:g.122589247A>T	GRCh38
NC_000010.10:g.124348763A>T , CM000672.1:g.124348763A>T	GRCh37
NC_000010.9:g.124338753A>T	NCBI36
NG_012644.1:g.33583A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338354.10:c.2087A>T MANE Select	ENSP00000342210.4:p.Asp696Val
ENST00000652446.2:c.2087A>T	ENSP00000498825.1:p.Asp696Val
ENST00000653442.1:c.2087A>T	ENSP00000499436.1:p.Asp696Val
ENST00000657942.1:c.637+8352A>T	ENSP00000499391.1:n.637+8352A>T
ENST00000664692.1:c.2057A>T	ENSP00000499397.1:p.Asp686Val
ENST00000664974.1:c.1034-5249A>T	ENSP00000499641.1:n.1034-5249A>T
ENST00000666315.1:c.2087A>T	ENSP00000499304.1:p.Asp696Val
ENST00000330163.8:c.1034-5249A>T	ENSP00000327747.4:n.1034-5249A>T
ENST00000338354.7:c.2087A>T	ENSP00000342210.3:p.Asp696Val
ENST00000344338.7:c.2057A>T	ENSP00000343175.3:p.Asp686Val
ENST00000359586.10:c.670+7422A>T	ENSP00000352593.6:n.670+7422A>T
ENST00000368909.7:c.2087A>T	ENSP00000357905.3:p.Asp696Val
ENST00000368955.7:c.2057A>T	ENSP00000357951.3:p.Asp686Val
ENST00000368956.6:c.1420+4896A>T	ENSP00000357952.2:n.1420+4896A>T
ENST00000619379.1:c.2087A>T	ENSP00000484603.1:p.Asp696Val
NM_004406.2:c.1420+4896A>T	NP_004397.2:n.1420+4896A>T
NM_007329.2:c.2087A>T	NP_015568.2:p.Asp696Val
NM_017579.2:c.2057A>T	NP_060049.2:p.Asp686Val
XM_006717660.2:c.2039A>T	XP_006717723.1:p.Asp680Val
XM_006717665.2:c.1991A>T	XP_006717728.1:p.Asp664Val
XM_011539388.1:c.2087A>T	XP_011537690.1:p.Asp696Val
XM_011539389.1:c.2087A>T	XP_011537691.1:p.Asp696Val
XM_011539390.1:c.2087A>T	XP_011537692.1:p.Asp696Val
XM_011539391.1:c.2057A>T	XP_011537693.1:p.Asp686Val
XM_011539392.1:c.2087A>T	XP_011537694.1:p.Asp696Val
XM_011539393.1:c.2087A>T	XP_011537695.1:p.Asp696Val
XM_011539394.1:c.2087A>T	XP_011537696.1:p.Asp696Val
XM_011539395.1:c.2087A>T	XP_011537697.1:p.Asp696Val
XM_011539396.1:c.2039A>T	XP_011537698.1:p.Asp680Val
XM_011539397.1:c.2087A>T	XP_011537699.1:p.Asp696Val
XM_011539398.1:c.2024A>T	XP_011537700.1:p.Asp675Val
XM_011539399.1:c.1991A>T	XP_011537701.1:p.Asp664Val
XM_011539400.1:c.1784-1418A>T	XP_011537702.1:n.1784-1418A>T
XM_011539401.1:c.2087A>T	XP_011537703.1:p.Asp696Val
XM_011539402.1:c.1700A>T	XP_011537704.1:p.Asp567Val
XM_011539403.1:c.2087A>T	XP_011537705.1:p.Asp696Val
XM_011539404.1:c.2087A>T	XP_011537706.1:p.Asp696Val
XM_011539405.1:c.2087A>T	XP_011537707.1:p.Asp696Val
XM_011539406.1:c.2087A>T	XP_011537708.1:p.Asp696Val
XM_011539407.1:c.2087A>T	XP_011537709.1:p.Asp696Val
XM_011539408.1:c.1694A>T	XP_011537710.1:p.Asp565Val
XM_011539409.1:c.2087A>T	XP_011537711.1:p.Asp696Val
XM_011539410.1:c.2087A>T	XP_011537712.1:p.Asp696Val
XM_011539411.1:c.2087A>T	XP_011537713.1:p.Asp696Val
XM_011539412.1:c.1670A>T	XP_011537714.1:p.Asp557Val
XM_011539413.1:c.2087A>T	XP_011537715.1:p.Asp696Val
XM_011539414.1:c.1033+8352A>T	XP_011537716.1:n.1033+8352A>T
XM_011539415.1:c.2087A>T	XP_011537717.1:p.Asp696Val
XR_946388.1:n.1348-1024T>A
NM_001320644.1:c.2087A>T	NP_001307573.1:p.Asp696Val
XM_006717660.3:c.2039A>T	XP_006717723.1:p.Asp680Val
XM_006717665.3:c.1991A>T	XP_006717728.1:p.Asp664Val
XM_011539388.3:c.2087A>T	XP_011537690.1:p.Asp696Val
XM_011539389.3:c.2087A>T	XP_011537691.1:p.Asp696Val
XM_011539390.3:c.2087A>T	XP_011537692.1:p.Asp696Val
XM_011539391.3:c.2057A>T	XP_011537693.1:p.Asp686Val
XM_011539392.3:c.2087A>T	XP_011537694.1:p.Asp696Val
XM_011539393.3:c.2087A>T	XP_011537695.1:p.Asp696Val
XM_011539394.3:c.2087A>T	XP_011537696.1:p.Asp696Val
XM_011539395.3:c.2087A>T	XP_011537697.1:p.Asp696Val
XM_011539396.2:c.2039A>T	XP_011537698.1:p.Asp680Val
XM_011539398.3:c.2024A>T	XP_011537700.1:p.Asp675Val
XM_011539399.2:c.1991A>T	XP_011537701.1:p.Asp664Val
XM_011539400.3:c.1784-1418A>T	XP_011537702.1:n.1784-1418A>T
XM_011539401.3:c.2087A>T	XP_011537703.1:p.Asp696Val
XM_011539402.3:c.1700A>T	XP_011537704.1:p.Asp567Val
XM_011539403.3:c.2087A>T	XP_011537705.1:p.Asp696Val
XM_011539405.3:c.2087A>T	XP_011537707.1:p.Asp696Val
XM_011539407.3:c.2087A>T	XP_011537709.1:p.Asp696Val
XM_011539408.3:c.1694A>T	XP_011537710.1:p.Asp565Val
XM_011539409.3:c.2087A>T	XP_011537711.1:p.Asp696Val
XM_011539410.3:c.2087A>T	XP_011537712.1:p.Asp696Val
XM_011539411.3:c.2087A>T	XP_011537713.1:p.Asp696Val
XM_011539413.3:c.2087A>T	XP_011537715.1:p.Asp696Val
XM_011539414.3:c.1033+8352A>T	XP_011537716.1:n.1033+8352A>T
XM_011539415.3:c.2087A>T	XP_011537717.1:p.Asp696Val
XM_017015798.1:c.431A>T	XP_016871287.1:p.Asp144Val
XM_024447854.1:c.2087A>T	XP_024303622.1:p.Asp696Val
NM_001320644.2:c.2087A>T	NP_001307573.1:p.Asp696Val
NM_001377530.1:c.2087A>T MANE Select	NP_001364459.1:p.Asp696Val
NM_004406.3:c.1420+4896A>T	NP_004397.2:n.1420+4896A>T
NM_007329.3:c.2087A>T	NP_015568.2:p.Asp696Val
NM_017579.3:c.2057A>T	NP_060049.2:p.Asp686Val