Canonical Allele Identifier: CA2673591255
Gene: CPLANE1 HGNC NCBI
CPLANE1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 5-37249420-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37249420C>A , CM000667.2:g.37249420C>A GRCh38
NC_000005.9:g.37249522C>A , CM000667.1:g.37249522C>A GRCh37
NC_000005.8:g.37285279C>A NCBI36
NG_032772.1:g.5009G>T
NG_032772.2:g.5009G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000425232.6:c.-223G>T (CPLANE1) ENSP00000389014.2:n.-223G>T
NM_023073.3:c.-223G>T (CPLANE1) NP_075561.3:n.-223G>T
XR_925921.1:n.171+199C>A (CPLANE1-AS1)
NR_134263.1:n.176+199C>A (CPLANE1-AS1)
XM_005248345.4:c.-223G>T (CPLANE1) XP_005248402.1:n.-223G>T
XM_005248346.4:c.-223G>T (CPLANE1) XP_005248403.1:n.-223G>T
XM_005248347.4:c.-223G>T (CPLANE1) XP_005248404.1:n.-223G>T
XM_005248349.4:c.-223G>T (CPLANE1) XP_005248406.1:n.-223G>T
XM_005248350.4:c.-223G>T (CPLANE1) XP_005248407.1:n.-223G>T
XM_011514087.2:c.-223G>T (CPLANE1) XP_011512389.1:n.-223G>T
XM_011514088.2:c.-223G>T (CPLANE1) XP_011512390.1:n.-223G>T
XM_011514089.2:c.-223G>T (CPLANE1) XP_011512391.1:n.-223G>T
XM_011514092.2:c.-223G>T (CPLANE1) XP_011512394.1:n.-223G>T
XR_001742208.1:n.2G>T (CPLANE1)
XR_002956171.1:n.2G>T (CPLANE1)
XR_925644.2:n.2G>T (CPLANE1)