Canonical Allele Identifier: CA2673591230
Gene: CPLANE1 HGNC NCBI
CPLANE1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 5-37249390-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37249390C>A , CM000667.2:g.37249390C>A GRCh38
NC_000005.9:g.37249492C>A , CM000667.1:g.37249492C>A GRCh37
NC_000005.8:g.37285249C>A NCBI36
NG_032772.1:g.5039G>T
NG_032772.2:g.5039G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000425232.6:c.-193G>T (CPLANE1) ENSP00000389014.2:n.-193G>T
NM_023073.3:c.-193G>T (CPLANE1) NP_075561.3:n.-193G>T
XR_925921.1:n.171+169C>A (CPLANE1-AS1)
NR_134263.1:n.176+169C>A (CPLANE1-AS1)
XM_005248345.4:c.-193G>T (CPLANE1) XP_005248402.1:n.-193G>T
XM_005248346.4:c.-193G>T (CPLANE1) XP_005248403.1:n.-193G>T
XM_005248347.4:c.-193G>T (CPLANE1) XP_005248404.1:n.-193G>T
XM_005248349.4:c.-193G>T (CPLANE1) XP_005248406.1:n.-193G>T
XM_005248350.4:c.-193G>T (CPLANE1) XP_005248407.1:n.-193G>T
XM_011514086.3:c.-236G>T (CPLANE1) XP_011512388.1:n.-236G>T
XM_011514087.2:c.-193G>T (CPLANE1) XP_011512389.1:n.-193G>T
XM_011514088.2:c.-193G>T (CPLANE1) XP_011512390.1:n.-193G>T
XM_011514089.2:c.-193G>T (CPLANE1) XP_011512391.1:n.-193G>T
XM_011514090.3:c.-430G>T (CPLANE1) XP_011512392.1:n.-430G>T
XM_011514092.2:c.-193G>T (CPLANE1) XP_011512394.1:n.-193G>T
XM_017009761.2:c.-165G>T (CPLANE1) XP_016865250.1:n.-165G>T
XM_024446184.1:c.-473G>T (CPLANE1) XP_024301952.1:n.-473G>T
XM_024446185.1:c.-720G>T (CPLANE1) XP_024301953.1:n.-720G>T
XM_024446186.1:c.-1191G>T (CPLANE1) XP_024301954.1:n.-1191G>T
XR_001742208.1:n.32G>T (CPLANE1)
XR_002956171.1:n.32G>T (CPLANE1)
XR_925644.2:n.32G>T (CPLANE1)