Canonical Allele Identifier: CA4236371

Gene: DBNL

Linked Data

• ClinVar Variation Id: 2391300
• ClinVar RCV Id: RCV004227646
• dbSNP Id: rs111863542
• ExAC: 7:44099160 C / T
• gnomAD v2: 7-44099160-C-T
• gnomAD v3: 7-44059561-C-T
• gnomAD v4: 7-44059561-C-T
• MyVariant Identifiers: chr7:g.44099160C>T (hg19) ; chr7:g.44059561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44059561C>T , CM000669.2:g.44059561C>T	GRCh38
NC_000007.13:g.44099160C>T , CM000669.1:g.44099160C>T	GRCh37
NC_000007.12:g.44065685C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448521.6:c.950C>T MANE Select	ENSP00000411701.1:p.Pro317Leu
ENST00000411855.5:c.*576C>T	ENSP00000390397.1:n.*576C>T
ENST00000429716.5:c.*573C>T	ENSP00000400817.1:n.*573C>T
ENST00000432854.5:c.735C>T
ENST00000440166.5:c.641C>T	ENSP00000415173.1:p.Pro214Leu
ENST00000441840.7:c.*613C>T	ENSP00000392113.2:n.*613C>T
ENST00000448521.5:c.950C>T	ENSP00000411701.1:p.Pro317Leu
ENST00000449997.1:n.1028C>T
ENST00000452661.1:c.73C>T
ENST00000452943.5:c.878C>T	ENSP00000405343.1:p.Pro293Leu
ENST00000456905.5:c.806C>T	ENSP00000416421.1:p.Pro269Leu
ENST00000468694.5:c.977C>T	ENSP00000417653.1:p.Pro326Leu
ENST00000490734.6:c.668C>T	ENSP00000417749.2:p.Pro223Leu
ENST00000494774.5:c.953C>T	ENSP00000419992.1:p.Pro318Leu
ENST00000497184.5:n.3026C>T
ENST00000498733.5:c.*852C>T	ENSP00000418978.1:n.*852C>T
NM_001014436.2:c.950C>T	NP_001014436.1:p.Pro317Leu
NM_001122956.1:c.977C>T	NP_001116428.1:p.Pro326Leu
NM_001284313.1:c.641C>T	NP_001271242.1:p.Pro214Leu
NM_001284315.1:c.668C>T	NP_001271244.1:p.Pro223Leu
NM_014063.6:c.953C>T	NP_054782.2:p.Pro318Leu
XM_011515325.1:c.974C>T	XP_011513627.1:p.Pro325Leu
NM_001362723.1:c.974C>T	NP_001349652.1:p.Pro325Leu
NM_001014436.3:c.950C>T MANE Select	NP_001014436.1:p.Pro317Leu
NM_001122956.2:c.977C>T	NP_001116428.1:p.Pro326Leu
NM_001284313.2:c.641C>T	NP_001271242.1:p.Pro214Leu
NM_001362723.2:c.974C>T	NP_001349652.1:p.Pro325Leu
NM_014063.7:c.953C>T	NP_054782.2:p.Pro318Leu
NM_001284315.2:c.668C>T	NP_001271244.1:p.Pro223Leu