Canonical Allele Identifier: CA3002101

Gene: DMP1

Linked Data

• ClinVar Variation Id: 349979
• ClinVar RCV Id: RCV000359946 ; RCV000762099
• dbSNP Id: rs141979823
• ExAC: 4:88583774 C / A
• gnomAD v2: 4-88583774-C-A
• gnomAD v3: 4-87662622-C-A
• gnomAD v4: 4-87662622-C-A
• MyVariant Identifiers: chr4:g.88583774C>A (hg19) ; chr4:g.87662622C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87662622C>A , CM000666.2:g.87662622C>A	GRCh38
NC_000004.11:g.88583774C>A , CM000666.1:g.88583774C>A	GRCh37
NC_000004.10:g.88802798C>A	NCBI36
NG_008988.1:g.17321C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282479.8:c.796C>A	ENSP00000282479.6:p.Leu266Ile
ENST00000682752.1:c.*755C>A	ENSP00000507436.1:n.*755C>A
ENST00000682781.1:n.921C>A
ENST00000683764.1:n.1116C>A
ENST00000684240.1:n.1007C>A
ENST00000684389.1:n.968C>A
ENST00000339673.11:c.844C>A MANE Select	ENSP00000340935.6:p.Leu282Ile
ENST00000282479.7:c.796C>A	ENSP00000282479.6:p.Leu266Ile
ENST00000339673.10:c.844C>A	ENSP00000340935.6:p.Leu282Ile
NM_001079911.2:c.796C>A	NP_001073380.1:p.Leu266Ile
NM_004407.3:c.844C>A	NP_004398.1:p.Leu282Ile
XM_011531705.1:c.931C>A	XP_011530007.1:p.Leu311Ile
XM_011531706.1:c.883C>A	XP_011530008.1:p.Leu295Ile
XR_938960.1:n.115-5213G>T
XM_011531705.2:c.931C>A	XP_011530007.1:p.Leu311Ile
XM_011531706.2:c.883C>A	XP_011530008.1:p.Leu295Ile
XR_938960.2:n.115-5213G>T
NM_001079911.3:c.796C>A	NP_001073380.1:p.Leu266Ile
NM_004407.4:c.844C>A MANE Select	NP_004398.1:p.Leu282Ile