Canonical Allele Identifier: CA810319394

Gene: CPLANE1 CPLANE1-AS1

Linked Data

• dbSNP Id: rs1442185717
• gnomAD v4: 5-37249391-A-G
• MyVariant Identifiers: chr5:g.37249493A>G (hg19) ; chr5:g.37249391A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37249391A>G , CM000667.2:g.37249391A>G	GRCh38
NC_000005.9:g.37249493A>G , CM000667.1:g.37249493A>G	GRCh37
NC_000005.8:g.37285250A>G	NCBI36
NG_032772.1:g.5038T>C
NG_032772.2:g.5038T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.6:c.-194T>C (CPLANE1)	ENSP00000389014.2:n.-194T>C
NM_023073.3:c.-194T>C (CPLANE1)	NP_075561.3:n.-194T>C
XR_925921.1:n.171+170A>G (CPLANE1-AS1)
NR_134263.1:n.176+170A>G (CPLANE1-AS1)
XM_005248345.4:c.-194T>C (CPLANE1)	XP_005248402.1:n.-194T>C
XM_005248346.4:c.-194T>C (CPLANE1)	XP_005248403.1:n.-194T>C
XM_005248347.4:c.-194T>C (CPLANE1)	XP_005248404.1:n.-194T>C
XM_005248349.4:c.-194T>C (CPLANE1)	XP_005248406.1:n.-194T>C
XM_005248350.4:c.-194T>C (CPLANE1)	XP_005248407.1:n.-194T>C
XM_011514086.3:c.-237T>C (CPLANE1)	XP_011512388.1:n.-237T>C
XM_011514087.2:c.-194T>C (CPLANE1)	XP_011512389.1:n.-194T>C
XM_011514088.2:c.-194T>C (CPLANE1)	XP_011512390.1:n.-194T>C
XM_011514089.2:c.-194T>C (CPLANE1)	XP_011512391.1:n.-194T>C
XM_011514092.2:c.-194T>C (CPLANE1)	XP_011512394.1:n.-194T>C
XM_017009761.2:c.-166T>C (CPLANE1)	XP_016865250.1:n.-166T>C
XR_001742208.1:n.31T>C (CPLANE1)
XR_002956171.1:n.31T>C (CPLANE1)
XR_925644.2:n.31T>C (CPLANE1)