Canonical Allele Identifier: CA1075119761
Gene: CPLANE1 HGNC NCBI
CPLANE1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1740949945
gnomAD v3: 5-37249257-C-T
gnomAD v4: 5-37249257-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37249257C>T , CM000667.2:g.37249257C>T GRCh38
NC_000005.9:g.37249359C>T , CM000667.1:g.37249359C>T GRCh37
NC_000005.8:g.37285116C>T NCBI36
NG_032772.1:g.5172G>A
NG_032772.2:g.5172G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651892.2:c.-60G>A (CPLANE1) MANE Select ENSP00000498265.2:n.-60G>A
ENST00000675547.1:n.109G>A (CPLANE1)
ENST00000425232.6:c.-60G>A (CPLANE1) ENSP00000389014.2:n.-60G>A
NM_023073.3:c.-60G>A (CPLANE1) NP_075561.3:n.-60G>A
XM_005248345.2:c.-60G>A (CPLANE1) XP_005248402.1:n.-60G>A
XM_005248346.2:c.-60G>A (CPLANE1) XP_005248403.1:n.-60G>A
XM_005248347.2:c.-60G>A (CPLANE1) XP_005248404.1:n.-60G>A
XM_005248349.2:c.-60G>A (CPLANE1) XP_005248406.1:n.-60G>A
XM_005248350.2:c.-60G>A (CPLANE1) XP_005248407.1:n.-60G>A
XM_006714489.2:c.-60G>A (CPLANE1) XP_006714552.1:n.-60G>A
XM_011514086.1:c.-103G>A (CPLANE1) XP_011512388.1:n.-103G>A
XM_011514087.1:c.-60G>A (CPLANE1) XP_011512389.1:n.-60G>A
XM_011514088.1:c.-60G>A (CPLANE1) XP_011512390.1:n.-60G>A
XM_011514089.1:c.-60G>A (CPLANE1) XP_011512391.1:n.-60G>A
XM_011514090.1:c.-297G>A (CPLANE1) XP_011512392.1:n.-297G>A
XM_011514092.1:c.-60G>A (CPLANE1) XP_011512394.1:n.-60G>A
XM_011514093.1:c.-60G>A (CPLANE1) XP_011512395.1:n.-60G>A
XR_427661.2:n.116G>A (CPLANE1)
XR_925644.1:n.116G>A (CPLANE1)
XR_925921.1:n.171+36C>T (CPLANE1-AS1)
NR_134263.1:n.176+36C>T (CPLANE1-AS1)
XM_005248345.4:c.-60G>A (CPLANE1) XP_005248402.1:n.-60G>A
XM_005248346.4:c.-60G>A (CPLANE1) XP_005248403.1:n.-60G>A
XM_005248347.4:c.-60G>A (CPLANE1) XP_005248404.1:n.-60G>A
XM_005248349.4:c.-60G>A (CPLANE1) XP_005248406.1:n.-60G>A
XM_005248350.4:c.-60G>A (CPLANE1) XP_005248407.1:n.-60G>A
XM_011514086.3:c.-103G>A (CPLANE1) XP_011512388.1:n.-103G>A
XM_011514087.2:c.-60G>A (CPLANE1) XP_011512389.1:n.-60G>A
XM_011514088.2:c.-60G>A (CPLANE1) XP_011512390.1:n.-60G>A
XM_011514089.2:c.-60G>A (CPLANE1) XP_011512391.1:n.-60G>A
XM_011514090.3:c.-297G>A (CPLANE1) XP_011512392.1:n.-297G>A
XM_011514092.2:c.-60G>A (CPLANE1) XP_011512394.1:n.-60G>A
XM_017009761.2:c.-32G>A (CPLANE1) XP_016865250.1:n.-32G>A
XM_017009765.1:c.-991G>A (CPLANE1) XP_016865254.1:n.-991G>A
XM_024446184.1:c.-340G>A (CPLANE1) XP_024301952.1:n.-340G>A
XM_024446185.1:c.-587G>A (CPLANE1) XP_024301953.1:n.-587G>A
XM_024446186.1:c.-1058G>A (CPLANE1) XP_024301954.1:n.-1058G>A
XR_001742208.1:n.165G>A (CPLANE1)
XR_002956171.1:n.165G>A (CPLANE1)
XR_925644.2:n.165G>A (CPLANE1)
NM_001384732.1:c.-60G>A (CPLANE1) MANE Select NP_001371661.1:n.-60G>A
NM_023073.4:c.-60G>A (CPLANE1) NP_075561.3:n.-60G>A