Canonical Allele Identifier: CA687377784

Gene: BICD1

Linked Data

• dbSNP Id: rs1307826990
• gnomAD v3: 12-32176190-T-C
• gnomAD v4: 12-32176190-T-C
• MyVariant Identifiers: chr12:g.32329124T>C (hg19) ; chr12:g.32176190T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32176190T>C , CM000674.2:g.32176190T>C	GRCh38
NC_000012.11:g.32329124T>C , CM000674.1:g.32329124T>C	GRCh37
NC_000012.10:g.32220391T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000548411.6:c.214-40057T>C	ENSP00000446793.1:n.214-40057T>C
ENST00000652176.1:c.214-40057T>C MANE Select	ENSP00000498700.1:n.214-40057T>C
ENST00000281474.9:c.214-40057T>C	ENSP00000281474.5:n.214-40057T>C
ENST00000395758.3:c.214-40057T>C	ENSP00000379107.3:n.214-40057T>C
ENST00000548411.5:c.214-40057T>C	ENSP00000446793.1:n.214-40057T>C
NM_001003398.1:c.214-40057T>C	NP_001003398.1:n.214-40057T>C
NM_001714.2:c.214-40057T>C	NP_001705.2:n.214-40057T>C
XM_005253465.2:c.214-40057T>C	XP_005253522.1:n.214-40057T>C
XM_005253466.2:c.214-40057T>C	XP_005253523.1:n.214-40057T>C
XM_006719134.2:c.214-40057T>C	XP_006719197.1:n.214-40057T>C
XM_011520812.1:c.214-40057T>C	XP_011519114.1:n.214-40057T>C
XM_011520813.1:c.214-40057T>C	XP_011519115.1:n.214-40057T>C
XM_011520814.1:c.214-40057T>C	XP_011519116.1:n.214-40057T>C
XM_011520815.1:c.214-40057T>C	XP_011519117.1:n.214-40057T>C
XM_011520816.1:c.214-40057T>C	XP_011519118.1:n.214-40057T>C
XR_242898.2:n.810-40057T>C
NM_001003398.2:c.214-40057T>C	NP_001003398.1:n.214-40057T>C
NM_001354186.1:c.214-40057T>C	NP_001341115.1:n.214-40057T>C
NM_001354187.1:c.214-40057T>C	NP_001341116.1:n.214-40057T>C
NM_001354188.1:c.214-40057T>C	NP_001341117.1:n.214-40057T>C
NM_001354189.1:c.214-40057T>C	NP_001341118.1:n.214-40057T>C
NM_001363603.1:c.214-40057T>C	NP_001350532.1:n.214-40057T>C
NM_001714.3:c.214-40057T>C	NP_001705.2:n.214-40057T>C
NR_148725.1:n.739-40057T>C
XM_011520812.3:c.214-40057T>C	XP_011519114.1:n.214-40057T>C
XM_011520813.2:c.214-40057T>C	XP_011519115.1:n.214-40057T>C
XM_011520814.3:c.214-40057T>C	XP_011519116.1:n.214-40057T>C
XM_011520815.3:c.214-40057T>C	XP_011519117.1:n.214-40057T>C
XR_002957369.1:n.773-40057T>C
NM_001714.4:c.214-40057T>C MANE Select	NP_001705.2:n.214-40057T>C
NM_001003398.3:c.214-40057T>C	NP_001003398.1:n.214-40057T>C
NM_001354186.2:c.214-40057T>C	NP_001341115.1:n.214-40057T>C
NM_001354187.2:c.214-40057T>C	NP_001341116.1:n.214-40057T>C
NM_001354188.2:c.214-40057T>C	NP_001341117.1:n.214-40057T>C
NM_001354189.2:c.214-40057T>C	NP_001341118.1:n.214-40057T>C
NR_148725.2:n.699-40057T>C
NM_001363603.2:c.214-40057T>C	NP_001350532.1:n.214-40057T>C