Canonical Allele Identifier: CA3001990
Gene: DMP1 HGNC NCBI
COSMIC:
COSM3760816 (not active)
MyVariant.info:
GRCh38 chr4:g.87661983A>T
GRCh37 chr4:g.88583135A>T
Revel Score:
ENST00000339673 (MANE Select) 0.117
ENST00000282479 0.117
gnomAD v2:
4:88583135 A / T
gnomAD v3:
4:87661983 A / T
gnomAD v4:
chr4-87661983-A-T
Joint Max Group AF 0.4037242 (EAS)
Genomes Max Group AF 0.40935767 (EAS)
Exomes Max Group AF 0.40142468 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87661983A>T , CM000666.2:g.87661983A>T GRCh38
NC_000004.11:g.88583135A>T , CM000666.1:g.88583135A>T GRCh37
NC_000004.10:g.88802159A>T NCBI36
NG_008988.1:g.16682A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282479.8:c.157A>T ENSP00000282479.6:p.Ser53Cys
ENST00000682752.1:c.*116A>T ENSP00000507436.1:n.*116A>T
ENST00000682781.1:n.282A>T
ENST00000683764.1:n.477A>T
ENST00000684240.1:n.368A>T
ENST00000684389.1:n.329A>T
ENST00000339673.11:c.205A>T MANE Select ENSP00000340935.6:p.Ser69Cys
ENST00000282479.7:c.157A>T ENSP00000282479.6:p.Ser53Cys
ENST00000339673.10:c.205A>T ENSP00000340935.6:p.Ser69Cys
NM_001079911.2:c.157A>T NP_001073380.1:p.Ser53Cys
NM_004407.3:c.205A>T NP_004398.1:p.Ser69Cys
XM_011531705.1:c.292A>T XP_011530007.1:p.Ser98Cys
XM_011531706.1:c.244A>T XP_011530008.1:p.Ser82Cys
XR_938960.1:n.115-4574T>A
XM_011531705.2:c.292A>T XP_011530007.1:p.Ser98Cys
XM_011531706.2:c.244A>T XP_011530008.1:p.Ser82Cys
XR_938960.2:n.115-4574T>A
NM_001079911.3:c.157A>T NP_001073380.1:p.Ser53Cys
NM_004407.4:c.205A>T MANE Select NP_004398.1:p.Ser69Cys
Search 100 bp 5'
Search 100 bp 3'