Canonical Allele Identifier: CA684374418

Gene: BICDL1

Linked Data

• dbSNP Id: rs1482653986
• gnomAD v3: 12-120017967-C-A
• gnomAD v4: 12-120017967-C-A
• MyVariant Identifiers: chr12:g.120455771C>A (hg19) ; chr12:g.120017967C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120017967C>A , CM000674.2:g.120017967C>A	GRCh38
NC_000012.11:g.120455771C>A , CM000674.1:g.120455771C>A	GRCh37
NC_000012.10:g.118940154C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000548673.6:c.645+19231C>A MANE Select	ENSP00000447477.2:n.645+19231C>A
ENST00000397558.6:c.645+19231C>A	ENSP00000380690.2:n.645+19231C>A
ENST00000546420.5:c.786+18055C>A
NM_207311.2:c.645+19231C>A	NP_997194.2:n.645+19231C>A
XM_005253991.3:c.645+19231C>A	XP_005254048.1:n.645+19231C>A
XM_006719694.2:c.645+19231C>A	XP_006719757.1:n.645+19231C>A
XM_006719696.2:c.645+19231C>A	XP_006719759.1:n.645+19231C>A
XM_006719697.2:c.645+19231C>A	XP_006719760.1:n.645+19231C>A
XM_011538999.1:c.645+19231C>A	XP_011537301.1:n.645+19231C>A
XM_011539000.1:c.33+18055C>A	XP_011537302.1:n.33+18055C>A
XR_944834.1:n.705+19231C>A
XR_944836.1:n.705+19231C>A
NR_147892.1:n.670+19231C>A
NR_147893.1:n.670+19231C>A
NR_147894.1:n.822+18055C>A
XM_005253991.4:c.645+19231C>A	XP_005254048.1:n.645+19231C>A
XM_006719694.3:c.645+19231C>A	XP_006719757.1:n.645+19231C>A
XM_006719696.3:c.645+19231C>A	XP_006719759.1:n.645+19231C>A
XM_006719697.3:c.645+19231C>A	XP_006719760.1:n.645+19231C>A
XM_011538999.2:c.645+19231C>A	XP_011537301.1:n.645+19231C>A
XM_011539000.2:c.33+18055C>A	XP_011537302.1:n.33+18055C>A
XR_001748923.1:n.698+19231C>A
XR_944834.2:n.699+19231C>A
XR_944836.3:n.699+19231C>A
NM_001367886.1:c.645+19231C>A MANE Select	NP_001354815.1:n.645+19231C>A