Canonical Allele Identifier: CA810319460
Gene: CPLANE1-AS1 HGNC NCBI
CPLANE1 HGNC NCBI

Linked Data

dbSNP Id: rs1414177402
gnomAD v3: 5-37249440-C-T
gnomAD v4: 5-37249440-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37249440C>T , CM000667.2:g.37249440C>T GRCh38
NC_000005.9:g.37249542C>T , CM000667.1:g.37249542C>T GRCh37
NC_000005.8:g.37285299C>T NCBI36
NG_032772.1:g.4989G>A
NG_032772.2:g.4989G>A

Transcript Alleles

HGVS Amino-acid change
XR_925921.1:n.171+219C>T (CPLANE1-AS1)
NR_134263.1:n.176+219C>T (CPLANE1-AS1)
XM_005248345.4:c.-243G>A (CPLANE1) XP_005248402.1:n.-243G>A
XM_005248346.4:c.-243G>A (CPLANE1) XP_005248403.1:n.-243G>A
XM_005248347.4:c.-243G>A (CPLANE1) XP_005248404.1:n.-243G>A
XM_005248349.4:c.-243G>A (CPLANE1) XP_005248406.1:n.-243G>A
XM_005248350.4:c.-243G>A (CPLANE1) XP_005248407.1:n.-243G>A