Canonical Allele Identifier: CA2797697297

Gene: BICDL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120017790G>A , CM000674.2:g.120017790G>A	GRCh38
NC_000012.11:g.120455594G>A , CM000674.1:g.120455594G>A	GRCh37
NC_000012.10:g.118939977G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000548673.6:c.645+19054G>A MANE Select	ENSP00000447477.2:n.645+19054G>A
ENST00000397558.6:c.645+19054G>A	ENSP00000380690.2:n.645+19054G>A
ENST00000546420.5:c.786+17878G>A
NM_207311.2:c.645+19054G>A	NP_997194.2:n.645+19054G>A
XM_005253991.3:c.645+19054G>A	XP_005254048.1:n.645+19054G>A
XM_006719694.2:c.645+19054G>A	XP_006719757.1:n.645+19054G>A
XM_006719696.2:c.645+19054G>A	XP_006719759.1:n.645+19054G>A
XM_006719697.2:c.645+19054G>A	XP_006719760.1:n.645+19054G>A
XM_011538999.1:c.645+19054G>A	XP_011537301.1:n.645+19054G>A
XM_011539000.1:c.33+17878G>A	XP_011537302.1:n.33+17878G>A
XR_944834.1:n.705+19054G>A
XR_944836.1:n.705+19054G>A
NR_147892.1:n.670+19054G>A
NR_147893.1:n.670+19054G>A
NR_147894.1:n.822+17878G>A
XM_005253991.4:c.645+19054G>A	XP_005254048.1:n.645+19054G>A
XM_006719694.3:c.645+19054G>A	XP_006719757.1:n.645+19054G>A
XM_006719696.3:c.645+19054G>A	XP_006719759.1:n.645+19054G>A
XM_006719697.3:c.645+19054G>A	XP_006719760.1:n.645+19054G>A
XM_011538999.2:c.645+19054G>A	XP_011537301.1:n.645+19054G>A
XM_011539000.2:c.33+17878G>A	XP_011537302.1:n.33+17878G>A
XR_001748923.1:n.698+19054G>A
XR_944834.2:n.699+19054G>A
XR_944836.3:n.699+19054G>A
NM_001367886.1:c.645+19054G>A MANE Select	NP_001354815.1:n.645+19054G>A