Canonical Allele Identifier: CA10654682
Gene: CPLANE1-AS1 HGNC NCBI
CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 369472
ClinVar RCV Id: RCV000395527
dbSNP Id: rs80164363
gnomAD v2: 5-37249533-C-G
gnomAD v3: 5-37249431-C-G
gnomAD v4: 5-37249431-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37249431C>G , CM000667.2:g.37249431C>G GRCh38
NC_000005.9:g.37249533C>G , CM000667.1:g.37249533C>G GRCh37
NC_000005.8:g.37285290C>G NCBI36
NG_032772.1:g.4998G>C
NG_032772.2:g.4998G>C

Transcript Alleles

HGVS Amino-acid change
XR_925921.1:n.171+210C>G (CPLANE1-AS1)
NR_134263.1:n.176+210C>G (CPLANE1-AS1)
XM_005248345.4:c.-234G>C (CPLANE1) XP_005248402.1:n.-234G>C
XM_005248346.4:c.-234G>C (CPLANE1) XP_005248403.1:n.-234G>C
XM_005248347.4:c.-234G>C (CPLANE1) XP_005248404.1:n.-234G>C
XM_005248349.4:c.-234G>C (CPLANE1) XP_005248406.1:n.-234G>C
XM_005248350.4:c.-234G>C (CPLANE1) XP_005248407.1:n.-234G>C