Canonical Allele Identifier: CA810319434

Gene: CPLANE1 CPLANE1-AS1

Linked Data

• dbSNP Id: rs1212126595
• gnomAD v3: 5-37249428-C-G
• gnomAD v4: 5-37249428-C-G
• MyVariant Identifiers: chr5:g.37249530C>G (hg19) ; chr5:g.37249428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37249428C>G , CM000667.2:g.37249428C>G	GRCh38
NC_000005.9:g.37249530C>G , CM000667.1:g.37249530C>G	GRCh37
NC_000005.8:g.37285287C>G	NCBI36
NG_032772.1:g.5001G>C
NG_032772.2:g.5001G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.6:c.-231G>C (CPLANE1)	ENSP00000389014.2:n.-231G>C
NM_023073.3:c.-231G>C (CPLANE1)	NP_075561.3:n.-231G>C
XR_925921.1:n.171+207C>G (CPLANE1-AS1)
NR_134263.1:n.176+207C>G (CPLANE1-AS1)
XM_005248345.4:c.-231G>C (CPLANE1)	XP_005248402.1:n.-231G>C
XM_005248346.4:c.-231G>C (CPLANE1)	XP_005248403.1:n.-231G>C
XM_005248347.4:c.-231G>C (CPLANE1)	XP_005248404.1:n.-231G>C
XM_005248349.4:c.-231G>C (CPLANE1)	XP_005248406.1:n.-231G>C
XM_005248350.4:c.-231G>C (CPLANE1)	XP_005248407.1:n.-231G>C