Canonical Allele Identifier: CA2581623084

Gene: DCBLD1

Genomic Alleles

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

Transcript Alleles

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