Canonical Allele Identifier: CA3002124

Gene: DMP1

Linked Data

• ClinVar Variation Id: 349981
• ClinVar RCV Id: RCV000306370 ; RCV000912858
• dbSNP Id: rs140807822
• ExAC: 4:88583953 C / T
• gnomAD v2: 4-88583953-C-T
• gnomAD v3: 4-87662801-C-T
• gnomAD v4: 4-87662801-C-T
• MyVariant Identifiers: chr4:g.88583953C>T (hg19) ; chr4:g.87662801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87662801C>T , CM000666.2:g.87662801C>T	GRCh38
NC_000004.11:g.88583953C>T , CM000666.1:g.88583953C>T	GRCh37
NC_000004.10:g.88802977C>T	NCBI36
NG_008988.1:g.17500C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282479.8:c.975C>T	ENSP00000282479.6:p.Ser325=
ENST00000682752.1:c.*934C>T	ENSP00000507436.1:n.*934C>T
ENST00000682781.1:n.1100C>T
ENST00000683764.1:n.1295C>T
ENST00000684240.1:n.1186C>T
ENST00000684389.1:n.1147C>T
ENST00000339673.11:c.1023C>T MANE Select	ENSP00000340935.6:p.Ser341=
ENST00000282479.7:c.975C>T	ENSP00000282479.6:p.Ser325=
ENST00000339673.10:c.1023C>T	ENSP00000340935.6:p.Ser341=
NM_001079911.2:c.975C>T	NP_001073380.1:p.Ser325=
NM_004407.3:c.1023C>T	NP_004398.1:p.Ser341=
XM_011531705.1:c.1110C>T	XP_011530007.1:p.Ser370=
XM_011531706.1:c.1062C>T	XP_011530008.1:p.Ser354=
XR_938960.1:n.115-5392G>A
XM_011531705.2:c.1110C>T	XP_011530007.1:p.Ser370=
XM_011531706.2:c.1062C>T	XP_011530008.1:p.Ser354=
XR_938960.2:n.115-5392G>A
NM_001079911.3:c.975C>T	NP_001073380.1:p.Ser325=
NM_004407.4:c.1023C>T MANE Select	NP_004398.1:p.Ser341=