Allele Registry

Canonical Allele Identifier: CA12278056

Gene: DCBLD1 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN14992089 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.117522909A>G

GRCh37 chr6:g.117844072A>G

Linked Data - Sequence & Population

gnomAD v2:

6:117844072 A / G

gnomAD v3:

6:117522909 A / G

gnomAD v4:

chr6-117522909-A-G

Joint Max Group AF 0.86674943 (AFR)

Genomes Max Group AF 0.86674943 (AFR)

Linked Data - NCBI & NCI

dbSNP:

210648

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117522909A>G , CM000668.2:g.117522909A>G	GRCh38
NC_000006.11:g.117844072A>G , CM000668.1:g.117844072A>G	GRCh37
NC_000006.10:g.117950765A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338728.10:c.512+1333A>G MANE Select	ENSP00000342422.6:n.512+1333A>G
ENST00000296955.12:c.512+1333A>G	ENSP00000296955.8:n.512+1333A>G
ENST00000338728.9:c.512+1333A>G	ENSP00000342422.5:n.512+1333A>G
ENST00000467125.1:c.547+43945T>C	ENSP00000487717.1:n.547+43945T>C
ENST00000533453.5:n.608+1333A>G
NM_173674.1:c.512+1333A>G	NP_775945.1:n.512+1333A>G
XM_005266941.1:c.653+1333A>G	XP_005266998.1:n.653+1333A>G
XM_006715463.1:c.653+1333A>G	XP_006715526.1:n.653+1333A>G
XM_011535770.1:c.518+1333A>G	XP_011534072.1:n.518+1333A>G
XM_011535771.1:c.356+1333A>G	XP_011534073.1:n.356+1333A>G
XM_011535772.1:c.356+1333A>G	XP_011534074.1:n.356+1333A>G
XM_011535773.1:c.653+1333A>G	XP_011534075.1:n.653+1333A>G
XM_011535774.1:c.653+1333A>G	XP_011534076.1:n.653+1333A>G
NM_001366458.1:c.512+1333A>G	NP_001353387.1:n.512+1333A>G
NM_001366459.1:c.512+1333A>G	NP_001353388.1:n.512+1333A>G
NM_001366460.1:c.512+1333A>G	NP_001353389.1:n.512+1333A>G
NM_173674.2:c.512+1333A>G	NP_775945.1:n.512+1333A>G
NR_158983.1:n.620+1333A>G
XM_011535773.2:c.653+1333A>G	XP_011534075.1:n.653+1333A>G
XM_011535774.2:c.653+1333A>G	XP_011534076.1:n.653+1333A>G
XM_017010775.2:c.356+1333A>G	XP_016866264.1:n.356+1333A>G
NM_001366458.2:c.512+1333A>G MANE Select	NP_001353387.1:n.512+1333A>G
NM_001366459.2:c.512+1333A>G	NP_001353388.1:n.512+1333A>G
NM_001366460.2:c.512+1333A>G	NP_001353389.1:n.512+1333A>G
NR_158983.2:n.620+1333A>G
NM_173674.3:c.512+1333A>G	NP_775945.1:n.512+1333A>G

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