Canonical Allele Identifier: CA1075117188

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1775404261
• gnomAD v3: 5-37157307-G-A
• gnomAD v4: 5-37157307-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37157307G>A , CM000667.2:g.37157307G>A	GRCh38
NC_000005.9:g.37157409G>A , CM000667.1:g.37157409G>A	GRCh37
NC_000005.8:g.37193166G>A	NCBI36
NG_032772.1:g.97122C>T
NG_032772.2:g.97122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1118+6C>T
ENST00000651892.2:c.8119+6C>T MANE Select	ENSP00000498265.2:n.8119+6C>T
ENST00000425232.6:c.7957+363C>T	ENSP00000389014.2:n.7957+363C>T
ENST00000508244.5:c.7957+363C>T	ENSP00000421690.1:n.7957+363C>T
ENST00000509849.5:c.5131+6C>T	ENSP00000426337.1:n.5131+6C>T
ENST00000509957.5:n.361+6C>T
ENST00000511210.5:n.410+6C>T
ENST00000511824.2:c.1233+6C>T
ENST00000514429.5:c.5155+363C>T	ENSP00000424223.1:n.5155+363C>T
ENST00000515380.1:n.371+6C>T
NM_023073.3:c.7957+363C>T	NP_075561.3:n.7957+363C>T
XM_005248345.2:c.8119+6C>T	XP_005248402.1:n.8119+6C>T
XM_005248346.2:c.8116+6C>T	XP_005248403.1:n.8116+6C>T
XM_005248347.2:c.8116+6C>T	XP_005248404.1:n.8116+6C>T
XM_005248349.2:c.8008+363C>T	XP_005248406.1:n.8008+363C>T
XM_005248350.2:c.7990+6C>T	XP_005248407.1:n.7990+6C>T
XM_005248353.3:c.4762+6C>T	XP_005248410.1:n.4762+6C>T
XM_006714489.2:c.8119+6C>T	XP_006714552.1:n.8119+6C>T
XM_006714491.2:c.2692+6C>T	XP_006714554.1:n.2692+6C>T
XM_011514085.1:c.8119+6C>T	XP_011512387.1:n.8119+6C>T
XM_011514086.1:c.8119+6C>T	XP_011512388.1:n.8119+6C>T
XM_011514087.1:c.8065+6C>T	XP_011512389.1:n.8065+6C>T
XM_011514088.1:c.8011+363C>T	XP_011512390.1:n.8011+363C>T
XM_011514089.1:c.8119+6C>T	XP_011512391.1:n.8119+6C>T
XM_011514090.1:c.7801+6C>T	XP_011512392.1:n.7801+6C>T
XM_011514091.1:c.7447+6C>T	XP_011512393.1:n.7447+6C>T
XM_011514092.1:c.8119+6C>T	XP_011512394.1:n.8119+6C>T
XM_011514094.1:c.5344+6C>T	XP_011512396.1:n.5344+6C>T
XR_427661.2:n.8294+6C>T
XR_925644.1:n.8294+6C>T
XM_005248345.4:c.8119+6C>T	XP_005248402.1:n.8119+6C>T
XM_005248346.4:c.8116+6C>T	XP_005248403.1:n.8116+6C>T
XM_005248347.4:c.8116+6C>T	XP_005248404.1:n.8116+6C>T
XM_005248349.4:c.8008+363C>T	XP_005248406.1:n.8008+363C>T
XM_005248350.4:c.7990+6C>T	XP_005248407.1:n.7990+6C>T
XM_006714491.3:c.2692+6C>T	XP_006714554.1:n.2692+6C>T
XM_011514085.3:c.8119+6C>T	XP_011512387.1:n.8119+6C>T
XM_011514086.3:c.8119+6C>T	XP_011512388.1:n.8119+6C>T
XM_011514087.2:c.8065+6C>T	XP_011512389.1:n.8065+6C>T
XM_011514088.2:c.8011+363C>T	XP_011512390.1:n.8011+363C>T
XM_011514089.2:c.8119+6C>T	XP_011512391.1:n.8119+6C>T
XM_011514090.3:c.7801+6C>T	XP_011512392.1:n.7801+6C>T
XM_011514092.2:c.8119+6C>T	XP_011512394.1:n.8119+6C>T
XM_011514094.2:c.5344+6C>T	XP_011512396.1:n.5344+6C>T
XM_017009760.1:c.7930+6C>T	XP_016865249.1:n.7930+6C>T
XM_017009761.2:c.7930+6C>T	XP_016865250.1:n.7930+6C>T
XM_017009763.1:c.7126+6C>T	XP_016865252.1:n.7126+6C>T
XM_017009765.1:c.6931+6C>T	XP_016865254.1:n.6931+6C>T
XM_017009766.1:c.4762+6C>T	XP_016865255.1:n.4762+6C>T
XM_024446183.1:c.7930+6C>T	XP_024301951.1:n.7930+6C>T
XM_024446184.1:c.7801+6C>T	XP_024301952.1:n.7801+6C>T
XM_024446185.1:c.7447+6C>T	XP_024301953.1:n.7447+6C>T
XM_024446186.1:c.7126+6C>T	XP_024301954.1:n.7126+6C>T
XR_001742208.1:n.8288+6C>T
XR_002956171.1:n.8234+6C>T
XR_925644.2:n.8343+6C>T
NM_001384732.1:c.8119+6C>T MANE Select	NP_001371661.1:n.8119+6C>T
NM_023073.4:c.7957+363C>T	NP_075561.3:n.7957+363C>T