Canonical Allele Identifier: CA10621757

Gene: CPLANE1 CPLANE1-AS1

Linked Data

• ClinVar Variation Id: 353470
• ClinVar RCV Id: RCV000307523
• dbSNP Id: rs769827950
• gnomAD v2: 5-37249450-G-A
• gnomAD v3: 5-37249348-G-A
• gnomAD v4: 5-37249348-G-A
• MyVariant Identifiers: chr5:g.37249450G>A (hg19) ; chr5:g.37249348G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37249348G>A , CM000667.2:g.37249348G>A	GRCh38
NC_000005.9:g.37249450G>A , CM000667.1:g.37249450G>A	GRCh37
NC_000005.8:g.37285207G>A	NCBI36
NG_032772.1:g.5081C>T
NG_032772.2:g.5081C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651892.2:c.-151C>T (CPLANE1) MANE Select	ENSP00000498265.2:n.-151C>T
ENST00000675547.1:n.18C>T (CPLANE1)
ENST00000425232.6:c.-151C>T (CPLANE1)	ENSP00000389014.2:n.-151C>T
NM_023073.3:c.-151C>T (CPLANE1)	NP_075561.3:n.-151C>T
XM_005248345.2:c.-151C>T (CPLANE1)	XP_005248402.1:n.-151C>T
XM_005248346.2:c.-151C>T (CPLANE1)	XP_005248403.1:n.-151C>T
XM_005248347.2:c.-151C>T (CPLANE1)	XP_005248404.1:n.-151C>T
XM_005248349.2:c.-151C>T (CPLANE1)	XP_005248406.1:n.-151C>T
XM_005248350.2:c.-151C>T (CPLANE1)	XP_005248407.1:n.-151C>T
XM_006714489.2:c.-151C>T (CPLANE1)	XP_006714552.1:n.-151C>T
XM_011514086.1:c.-194C>T (CPLANE1)	XP_011512388.1:n.-194C>T
XM_011514087.1:c.-151C>T (CPLANE1)	XP_011512389.1:n.-151C>T
XM_011514088.1:c.-151C>T (CPLANE1)	XP_011512390.1:n.-151C>T
XM_011514089.1:c.-151C>T (CPLANE1)	XP_011512391.1:n.-151C>T
XM_011514090.1:c.-388C>T (CPLANE1)	XP_011512392.1:n.-388C>T
XM_011514092.1:c.-151C>T (CPLANE1)	XP_011512394.1:n.-151C>T
XM_011514093.1:c.-151C>T (CPLANE1)	XP_011512395.1:n.-151C>T
XR_427661.2:n.25C>T (CPLANE1)
XR_925644.1:n.25C>T (CPLANE1)
XR_925921.1:n.171+127G>A (CPLANE1-AS1)
NR_134263.1:n.176+127G>A (CPLANE1-AS1)
XM_005248345.4:c.-151C>T (CPLANE1)	XP_005248402.1:n.-151C>T
XM_005248346.4:c.-151C>T (CPLANE1)	XP_005248403.1:n.-151C>T
XM_005248347.4:c.-151C>T (CPLANE1)	XP_005248404.1:n.-151C>T
XM_005248349.4:c.-151C>T (CPLANE1)	XP_005248406.1:n.-151C>T
XM_005248350.4:c.-151C>T (CPLANE1)	XP_005248407.1:n.-151C>T
XM_011514086.3:c.-194C>T (CPLANE1)	XP_011512388.1:n.-194C>T
XM_011514087.2:c.-151C>T (CPLANE1)	XP_011512389.1:n.-151C>T
XM_011514088.2:c.-151C>T (CPLANE1)	XP_011512390.1:n.-151C>T
XM_011514089.2:c.-151C>T (CPLANE1)	XP_011512391.1:n.-151C>T
XM_011514090.3:c.-388C>T (CPLANE1)	XP_011512392.1:n.-388C>T
XM_011514092.2:c.-151C>T (CPLANE1)	XP_011512394.1:n.-151C>T
XM_017009761.2:c.-123C>T (CPLANE1)	XP_016865250.1:n.-123C>T
XM_017009765.1:c.-1082C>T (CPLANE1)	XP_016865254.1:n.-1082C>T
XM_024446184.1:c.-431C>T (CPLANE1)	XP_024301952.1:n.-431C>T
XM_024446185.1:c.-678C>T (CPLANE1)	XP_024301953.1:n.-678C>T
XM_024446186.1:c.-1149C>T (CPLANE1)	XP_024301954.1:n.-1149C>T
XR_001742208.1:n.74C>T (CPLANE1)
XR_002956171.1:n.74C>T (CPLANE1)
XR_925644.2:n.74C>T (CPLANE1)
NM_001384732.1:c.-151C>T (CPLANE1) MANE Select	NP_001371661.1:n.-151C>T
NM_023073.4:c.-151C>T (CPLANE1)	NP_075561.3:n.-151C>T