Canonical Allele Identifier: CA2673591252

Gene: CPLANE1 CPLANE1-AS1

Linked Data

• gnomAD v4: 5-37249411-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37249411C>A , CM000667.2:g.37249411C>A	GRCh38
NC_000005.9:g.37249513C>A , CM000667.1:g.37249513C>A	GRCh37
NC_000005.8:g.37285270C>A	NCBI36
NG_032772.1:g.5018G>T
NG_032772.2:g.5018G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.6:c.-214G>T (CPLANE1)	ENSP00000389014.2:n.-214G>T
NM_023073.3:c.-214G>T (CPLANE1)	NP_075561.3:n.-214G>T
XR_925921.1:n.171+190C>A (CPLANE1-AS1)
NR_134263.1:n.176+190C>A (CPLANE1-AS1)
XM_005248345.4:c.-214G>T (CPLANE1)	XP_005248402.1:n.-214G>T
XM_005248346.4:c.-214G>T (CPLANE1)	XP_005248403.1:n.-214G>T
XM_005248347.4:c.-214G>T (CPLANE1)	XP_005248404.1:n.-214G>T
XM_005248349.4:c.-214G>T (CPLANE1)	XP_005248406.1:n.-214G>T
XM_005248350.4:c.-214G>T (CPLANE1)	XP_005248407.1:n.-214G>T
XM_011514087.2:c.-214G>T (CPLANE1)	XP_011512389.1:n.-214G>T
XM_011514088.2:c.-214G>T (CPLANE1)	XP_011512390.1:n.-214G>T
XM_011514089.2:c.-214G>T (CPLANE1)	XP_011512391.1:n.-214G>T
XM_011514092.2:c.-214G>T (CPLANE1)	XP_011512394.1:n.-214G>T
XR_001742208.1:n.11G>T (CPLANE1)
XR_002956171.1:n.11G>T (CPLANE1)
XR_925644.2:n.11G>T (CPLANE1)