Canonical Allele Identifier: CA2026041272

Gene: BICD1

Linked Data

• dbSNP Id: rs1144713
• gnomAD v4: 12-32108305-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32108305A>C , CM000674.2:g.32108305A>C	GRCh38
NC_000012.11:g.32261239A>C , CM000674.1:g.32261239A>C	GRCh37
NC_000012.10:g.32152506A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000548411.6:c.213+761A>C	ENSP00000446793.1:n.213+761A>C
ENST00000652176.1:c.213+761A>C MANE Select	ENSP00000498700.1:n.213+761A>C
ENST00000281474.9:c.213+761A>C	ENSP00000281474.5:n.213+761A>C
ENST00000395758.3:c.213+761A>C	ENSP00000379107.3:n.213+761A>C
ENST00000548411.5:c.213+761A>C	ENSP00000446793.1:n.213+761A>C
ENST00000550207.1:c.*617A>C	ENSP00000447663.1:n.*617A>C
ENST00000551086.1:c.226-340A>C	ENSP00000447238.1:n.226-340A>C
ENST00000551848.1:c.*692A>C	ENSP00000448933.1:n.*692A>C
NM_001003398.1:c.213+761A>C	NP_001003398.1:n.213+761A>C
NM_001714.2:c.213+761A>C	NP_001705.2:n.213+761A>C
XM_005253465.2:c.213+761A>C	XP_005253522.1:n.213+761A>C
XM_005253466.2:c.213+761A>C	XP_005253523.1:n.213+761A>C
XM_006719134.2:c.213+761A>C	XP_006719197.1:n.213+761A>C
XM_011520812.1:c.213+761A>C	XP_011519114.1:n.213+761A>C
XM_011520813.1:c.213+761A>C	XP_011519115.1:n.213+761A>C
XM_011520814.1:c.213+761A>C	XP_011519116.1:n.213+761A>C
XM_011520815.1:c.213+761A>C	XP_011519117.1:n.213+761A>C
XM_011520816.1:c.213+761A>C	XP_011519118.1:n.213+761A>C
XR_242898.2:n.809+761A>C
NM_001003398.2:c.213+761A>C	NP_001003398.1:n.213+761A>C
NM_001354186.1:c.213+761A>C	NP_001341115.1:n.213+761A>C
NM_001354187.1:c.213+761A>C	NP_001341116.1:n.213+761A>C
NM_001354188.1:c.213+761A>C	NP_001341117.1:n.213+761A>C
NM_001354189.1:c.213+761A>C	NP_001341118.1:n.213+761A>C
NM_001363603.1:c.213+761A>C	NP_001350532.1:n.213+761A>C
NM_001714.3:c.213+761A>C	NP_001705.2:n.213+761A>C
NR_148725.1:n.738+761A>C
XM_011520812.3:c.213+761A>C	XP_011519114.1:n.213+761A>C
XM_011520813.2:c.213+761A>C	XP_011519115.1:n.213+761A>C
XM_011520814.3:c.213+761A>C	XP_011519116.1:n.213+761A>C
XM_011520815.3:c.213+761A>C	XP_011519117.1:n.213+761A>C
XR_002957369.1:n.772+761A>C
NM_001714.4:c.213+761A>C MANE Select	NP_001705.2:n.213+761A>C
NM_001003398.3:c.213+761A>C	NP_001003398.1:n.213+761A>C
NM_001354186.2:c.213+761A>C	NP_001341115.1:n.213+761A>C
NM_001354187.2:c.213+761A>C	NP_001341116.1:n.213+761A>C
NM_001354188.2:c.213+761A>C	NP_001341117.1:n.213+761A>C
NM_001354189.2:c.213+761A>C	NP_001341118.1:n.213+761A>C
NR_148725.2:n.698+761A>C
NM_001363603.2:c.213+761A>C	NP_001350532.1:n.213+761A>C