Canonical Allele Identifier: CA1075119801

Gene: CPLANE1 CPLANE1-AS1

Linked Data

• dbSNP Id: rs1740997390
• gnomAD v3: 5-37249387-G-C
• gnomAD v4: 5-37249387-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37249387G>C , CM000667.2:g.37249387G>C	GRCh38
NC_000005.9:g.37249489G>C , CM000667.1:g.37249489G>C	GRCh37
NC_000005.8:g.37285246G>C	NCBI36
NG_032772.1:g.5042C>G
NG_032772.2:g.5042C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.6:c.-190C>G (CPLANE1)	ENSP00000389014.2:n.-190C>G
NM_023073.3:c.-190C>G (CPLANE1)	NP_075561.3:n.-190C>G
XR_925921.1:n.171+166G>C (CPLANE1-AS1)
NR_134263.1:n.176+166G>C (CPLANE1-AS1)
XM_005248345.4:c.-190C>G (CPLANE1)	XP_005248402.1:n.-190C>G
XM_005248346.4:c.-190C>G (CPLANE1)	XP_005248403.1:n.-190C>G
XM_005248347.4:c.-190C>G (CPLANE1)	XP_005248404.1:n.-190C>G
XM_005248349.4:c.-190C>G (CPLANE1)	XP_005248406.1:n.-190C>G
XM_005248350.4:c.-190C>G (CPLANE1)	XP_005248407.1:n.-190C>G
XM_011514086.3:c.-233C>G (CPLANE1)	XP_011512388.1:n.-233C>G
XM_011514087.2:c.-190C>G (CPLANE1)	XP_011512389.1:n.-190C>G
XM_011514088.2:c.-190C>G (CPLANE1)	XP_011512390.1:n.-190C>G
XM_011514089.2:c.-190C>G (CPLANE1)	XP_011512391.1:n.-190C>G
XM_011514090.3:c.-427C>G (CPLANE1)	XP_011512392.1:n.-427C>G
XM_011514092.2:c.-190C>G (CPLANE1)	XP_011512394.1:n.-190C>G
XM_017009761.2:c.-162C>G (CPLANE1)	XP_016865250.1:n.-162C>G
XM_024446184.1:c.-470C>G (CPLANE1)	XP_024301952.1:n.-470C>G
XM_024446185.1:c.-717C>G (CPLANE1)	XP_024301953.1:n.-717C>G
XM_024446186.1:c.-1188C>G (CPLANE1)	XP_024301954.1:n.-1188C>G
XR_001742208.1:n.35C>G (CPLANE1)
XR_002956171.1:n.35C>G (CPLANE1)
XR_925644.2:n.35C>G (CPLANE1)