Canonical Allele Identifier: CA810319383
Gene: CPLANE1 HGNC NCBI
CPLANE1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1200570417
gnomAD v3: 5-37249373-C-A
gnomAD v4: 5-37249373-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37249373C>A , CM000667.2:g.37249373C>A GRCh38
NC_000005.9:g.37249475C>A , CM000667.1:g.37249475C>A GRCh37
NC_000005.8:g.37285232C>A NCBI36
NG_032772.1:g.5056G>T
NG_032772.2:g.5056G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651892.2:c.-176G>T (CPLANE1) MANE Select ENSP00000498265.2:n.-176G>T
ENST00000425232.6:c.-176G>T (CPLANE1) ENSP00000389014.2:n.-176G>T
NM_023073.3:c.-176G>T (CPLANE1) NP_075561.3:n.-176G>T
XM_011514092.1:c.-176G>T (CPLANE1) XP_011512394.1:n.-176G>T
XM_011514093.1:c.-176G>T (CPLANE1) XP_011512395.1:n.-176G>T
XR_925921.1:n.171+152C>A (CPLANE1-AS1)
NR_134263.1:n.176+152C>A (CPLANE1-AS1)
XM_005248345.4:c.-176G>T (CPLANE1) XP_005248402.1:n.-176G>T
XM_005248346.4:c.-176G>T (CPLANE1) XP_005248403.1:n.-176G>T
XM_005248347.4:c.-176G>T (CPLANE1) XP_005248404.1:n.-176G>T
XM_005248349.4:c.-176G>T (CPLANE1) XP_005248406.1:n.-176G>T
XM_005248350.4:c.-176G>T (CPLANE1) XP_005248407.1:n.-176G>T
XM_011514086.3:c.-219G>T (CPLANE1) XP_011512388.1:n.-219G>T
XM_011514087.2:c.-176G>T (CPLANE1) XP_011512389.1:n.-176G>T
XM_011514088.2:c.-176G>T (CPLANE1) XP_011512390.1:n.-176G>T
XM_011514089.2:c.-176G>T (CPLANE1) XP_011512391.1:n.-176G>T
XM_011514090.3:c.-413G>T (CPLANE1) XP_011512392.1:n.-413G>T
XM_011514092.2:c.-176G>T (CPLANE1) XP_011512394.1:n.-176G>T
XM_017009761.2:c.-148G>T (CPLANE1) XP_016865250.1:n.-148G>T
XM_017009765.1:c.-1107G>T (CPLANE1) XP_016865254.1:n.-1107G>T
XM_024446184.1:c.-456G>T (CPLANE1) XP_024301952.1:n.-456G>T
XM_024446185.1:c.-703G>T (CPLANE1) XP_024301953.1:n.-703G>T
XM_024446186.1:c.-1174G>T (CPLANE1) XP_024301954.1:n.-1174G>T
XR_001742208.1:n.49G>T (CPLANE1)
XR_002956171.1:n.49G>T (CPLANE1)
XR_925644.2:n.49G>T (CPLANE1)
NM_001384732.1:c.-176G>T (CPLANE1) MANE Select NP_001371661.1:n.-176G>T
NM_023073.4:c.-176G>T (CPLANE1) NP_075561.3:n.-176G>T