Canonical Allele Identifier: CA3002094

Gene: DMP1

Linked Data

• ClinVar Variation Id: 349978
• ClinVar RCV Id: RCV000591260 ; RCV000764554 ; RCV003902356
• dbSNP Id: rs145237146
• ExAC: 4:88583745 G / A
• gnomAD v2: 4-88583745-G-A
• gnomAD v3: 4-87662593-G-A
• gnomAD v4: 4-87662593-G-A
• MyVariant Identifiers: chr4:g.88583745G>A (hg19) ; chr4:g.87662593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87662593G>A , CM000666.2:g.87662593G>A	GRCh38
NC_000004.11:g.88583745G>A , CM000666.1:g.88583745G>A	GRCh37
NC_000004.10:g.88802769G>A	NCBI36
NG_008988.1:g.17292G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282479.8:c.767G>A	ENSP00000282479.6:p.Arg256His
ENST00000682752.1:c.*726G>A	ENSP00000507436.1:n.*726G>A
ENST00000682781.1:n.892G>A
ENST00000683764.1:n.1087G>A
ENST00000684240.1:n.978G>A
ENST00000684389.1:n.939G>A
ENST00000339673.11:c.815G>A MANE Select	ENSP00000340935.6:p.Arg272His
ENST00000282479.7:c.767G>A	ENSP00000282479.6:p.Arg256His
ENST00000339673.10:c.815G>A	ENSP00000340935.6:p.Arg272His
NM_001079911.2:c.767G>A	NP_001073380.1:p.Arg256His
NM_004407.3:c.815G>A	NP_004398.1:p.Arg272His
XM_011531705.1:c.902G>A	XP_011530007.1:p.Arg301His
XM_011531706.1:c.854G>A	XP_011530008.1:p.Arg285His
XR_938960.1:n.115-5184C>T
XM_011531705.2:c.902G>A	XP_011530007.1:p.Arg301His
XM_011531706.2:c.854G>A	XP_011530008.1:p.Arg285His
XR_938960.2:n.115-5184C>T
NM_001079911.3:c.767G>A	NP_001073380.1:p.Arg256His
NM_004407.4:c.815G>A MANE Select	NP_004398.1:p.Arg272His