Canonical Allele Identifier: CA117071171
Gene: CPLANE1 HGNC NCBI
CPLANE1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1044834526
gnomAD v4: 5-37249270-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37249270G>A , CM000667.2:g.37249270G>A GRCh38
NC_000005.9:g.37249372G>A , CM000667.1:g.37249372G>A GRCh37
NC_000005.8:g.37285129G>A NCBI36
NG_032772.1:g.5159C>T
NG_032772.2:g.5159C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651892.2:c.-73C>T (CPLANE1) MANE Select ENSP00000498265.2:n.-73C>T
ENST00000675547.1:n.96C>T (CPLANE1)
ENST00000425232.6:c.-73C>T (CPLANE1) ENSP00000389014.2:n.-73C>T
NM_023073.3:c.-73C>T (CPLANE1) NP_075561.3:n.-73C>T
XM_005248345.2:c.-73C>T (CPLANE1) XP_005248402.1:n.-73C>T
XM_005248346.2:c.-73C>T (CPLANE1) XP_005248403.1:n.-73C>T
XM_005248347.2:c.-73C>T (CPLANE1) XP_005248404.1:n.-73C>T
XM_005248349.2:c.-73C>T (CPLANE1) XP_005248406.1:n.-73C>T
XM_005248350.2:c.-73C>T (CPLANE1) XP_005248407.1:n.-73C>T
XM_006714489.2:c.-73C>T (CPLANE1) XP_006714552.1:n.-73C>T
XM_011514086.1:c.-116C>T (CPLANE1) XP_011512388.1:n.-116C>T
XM_011514087.1:c.-73C>T (CPLANE1) XP_011512389.1:n.-73C>T
XM_011514088.1:c.-73C>T (CPLANE1) XP_011512390.1:n.-73C>T
XM_011514089.1:c.-73C>T (CPLANE1) XP_011512391.1:n.-73C>T
XM_011514090.1:c.-310C>T (CPLANE1) XP_011512392.1:n.-310C>T
XM_011514092.1:c.-73C>T (CPLANE1) XP_011512394.1:n.-73C>T
XM_011514093.1:c.-73C>T (CPLANE1) XP_011512395.1:n.-73C>T
XR_427661.2:n.103C>T (CPLANE1)
XR_925644.1:n.103C>T (CPLANE1)
XR_925921.1:n.171+49G>A (CPLANE1-AS1)
NR_134263.1:n.176+49G>A (CPLANE1-AS1)
XM_005248345.4:c.-73C>T (CPLANE1) XP_005248402.1:n.-73C>T
XM_005248346.4:c.-73C>T (CPLANE1) XP_005248403.1:n.-73C>T
XM_005248347.4:c.-73C>T (CPLANE1) XP_005248404.1:n.-73C>T
XM_005248349.4:c.-73C>T (CPLANE1) XP_005248406.1:n.-73C>T
XM_005248350.4:c.-73C>T (CPLANE1) XP_005248407.1:n.-73C>T
XM_011514086.3:c.-116C>T (CPLANE1) XP_011512388.1:n.-116C>T
XM_011514087.2:c.-73C>T (CPLANE1) XP_011512389.1:n.-73C>T
XM_011514088.2:c.-73C>T (CPLANE1) XP_011512390.1:n.-73C>T
XM_011514089.2:c.-73C>T (CPLANE1) XP_011512391.1:n.-73C>T
XM_011514090.3:c.-310C>T (CPLANE1) XP_011512392.1:n.-310C>T
XM_011514092.2:c.-73C>T (CPLANE1) XP_011512394.1:n.-73C>T
XM_017009761.2:c.-45C>T (CPLANE1) XP_016865250.1:n.-45C>T
XM_017009765.1:c.-1004C>T (CPLANE1) XP_016865254.1:n.-1004C>T
XM_024446184.1:c.-353C>T (CPLANE1) XP_024301952.1:n.-353C>T
XM_024446185.1:c.-600C>T (CPLANE1) XP_024301953.1:n.-600C>T
XM_024446186.1:c.-1071C>T (CPLANE1) XP_024301954.1:n.-1071C>T
XR_001742208.1:n.152C>T (CPLANE1)
XR_002956171.1:n.152C>T (CPLANE1)
XR_925644.2:n.152C>T (CPLANE1)
NM_001384732.1:c.-73C>T (CPLANE1) MANE Select NP_001371661.1:n.-73C>T
NM_023073.4:c.-73C>T (CPLANE1) NP_075561.3:n.-73C>T