Canonical Allele Identifier: CA3002212

Gene: DMP1

Linked Data

• ClinVar Variation Id: 2079270
• ClinVar RCV Id: RCV002995253
• dbSNP Id: rs373096835
• ExAC: 4:88584423 A / G
• gnomAD v2: 4-88584423-A-G
• gnomAD v3: 4-87663271-A-G
• gnomAD v4: 4-87663271-A-G
• MyVariant Identifiers: chr4:g.88584423A>G (hg19) ; chr4:g.87663271A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87663271A>G , CM000666.2:g.87663271A>G	GRCh38
NC_000004.11:g.88584423A>G , CM000666.1:g.88584423A>G	GRCh37
NC_000004.10:g.88803447A>G	NCBI36
NG_008988.1:g.17970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282479.8:c.1445A>G	ENSP00000282479.6:p.Asn482Ser
ENST00000682752.1:c.*1404A>G	ENSP00000507436.1:n.*1404A>G
ENST00000682781.1:n.1570A>G
ENST00000683764.1:n.1765A>G
ENST00000684240.1:n.1656A>G
ENST00000684389.1:n.1617A>G
ENST00000339673.11:c.1493A>G MANE Select	ENSP00000340935.6:p.Asn498Ser
ENST00000282479.7:c.1445A>G	ENSP00000282479.6:p.Asn482Ser
ENST00000339673.10:c.1493A>G	ENSP00000340935.6:p.Asn498Ser
NM_001079911.2:c.1445A>G	NP_001073380.1:p.Asn482Ser
NM_004407.3:c.1493A>G	NP_004398.1:p.Asn498Ser
XM_011531705.1:c.1580A>G	XP_011530007.1:p.Asn527Ser
XM_011531706.1:c.1532A>G	XP_011530008.1:p.Asn511Ser
XR_938960.1:n.115-5862T>C
XM_011531705.2:c.1580A>G	XP_011530007.1:p.Asn527Ser
XM_011531706.2:c.1532A>G	XP_011530008.1:p.Asn511Ser
XR_938960.2:n.115-5862T>C
NM_001079911.3:c.1445A>G	NP_001073380.1:p.Asn482Ser
NM_004407.4:c.1493A>G MANE Select	NP_004398.1:p.Asn498Ser