Canonical Allele Identifier: CA3237760
Gene: CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 353425
dbSNP Id: rs760623510
gnomAD v2: 5-37142530-A-G
gnomAD v3: 5-37142428-A-G
gnomAD v4: 5-37142428-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37142428A>G , CM000667.2:g.37142428A>G GRCh38
NC_000005.9:g.37142530A>G , CM000667.1:g.37142530A>G GRCh37
NC_000005.8:g.37178287A>G NCBI36
NG_032772.1:g.112001T>C
NG_032772.2:g.112001T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1513T>C
ENST00000651892.2:c.8514T>C MANE Select ENSP00000498265.2:p.Thr2838=
ENST00000425232.6:c.8352T>C ENSP00000389014.2:p.Thr2784=
ENST00000505121.1:n.214T>C
ENST00000508244.5:c.8352T>C ENSP00000421690.1:p.Thr2784=
ENST00000508405.1:n.246T>C
ENST00000509849.5:c.5526T>C ENSP00000426337.1:p.Thr1842=
ENST00000509957.5:n.756T>C
ENST00000512288.5:n.63T>C
ENST00000514429.5:c.5550T>C ENSP00000424223.1:p.Thr1850=
NM_023073.3:c.8352T>C NP_075561.3:p.Thr2784=
XM_005248345.2:c.8514T>C XP_005248402.1:p.Thr2838=
XM_005248346.2:c.8511T>C XP_005248403.1:p.Thr2837=
XM_005248347.2:c.8511T>C XP_005248404.1:p.Thr2837=
XM_005248349.2:c.8403T>C XP_005248406.1:p.Thr2801=
XM_005248350.2:c.8385T>C XP_005248407.1:p.Thr2795=
XM_005248353.3:c.5157T>C XP_005248410.1:p.Thr1719=
XM_006714489.2:c.8514T>C XP_006714552.1:p.Thr2838=
XM_006714491.2:c.3087T>C XP_006714554.1:p.Thr1029=
XM_011514085.1:c.8514T>C XP_011512387.1:p.Thr2838=
XM_011514086.1:c.8514T>C XP_011512388.1:p.Thr2838=
XM_011514087.1:c.8460T>C XP_011512389.1:p.Thr2820=
XM_011514088.1:c.8406T>C XP_011512390.1:p.Thr2802=
XM_011514089.1:c.8514T>C XP_011512391.1:p.Thr2838=
XM_011514090.1:c.8196T>C XP_011512392.1:p.Thr2732=
XM_011514091.1:c.7842T>C XP_011512393.1:p.Thr2614=
XM_011514092.1:c.8514T>C XP_011512394.1:p.Thr2838=
XM_011514094.1:c.5739T>C XP_011512396.1:p.Thr1913=
XR_427661.2:n.8689T>C
XR_925644.1:n.8689T>C
XM_005248345.4:c.8514T>C XP_005248402.1:p.Thr2838=
XM_005248346.4:c.8511T>C XP_005248403.1:p.Thr2837=
XM_005248347.4:c.8511T>C XP_005248404.1:p.Thr2837=
XM_005248349.4:c.8403T>C XP_005248406.1:p.Thr2801=
XM_005248350.4:c.8385T>C XP_005248407.1:p.Thr2795=
XM_006714491.3:c.3087T>C XP_006714554.1:p.Thr1029=
XM_011514085.3:c.8514T>C XP_011512387.1:p.Thr2838=
XM_011514086.3:c.8514T>C XP_011512388.1:p.Thr2838=
XM_011514087.2:c.8460T>C XP_011512389.1:p.Thr2820=
XM_011514088.2:c.8406T>C XP_011512390.1:p.Thr2802=
XM_011514089.2:c.8514T>C XP_011512391.1:p.Thr2838=
XM_011514090.3:c.8196T>C XP_011512392.1:p.Thr2732=
XM_011514092.2:c.8514T>C XP_011512394.1:p.Thr2838=
XM_011514094.2:c.5739T>C XP_011512396.1:p.Thr1913=
XM_017009760.1:c.8325T>C XP_016865249.1:p.Thr2775=
XM_017009761.2:c.8325T>C XP_016865250.1:p.Thr2775=
XM_017009763.1:c.7521T>C XP_016865252.1:p.Thr2507=
XM_017009765.1:c.7326T>C XP_016865254.1:p.Thr2442=
XM_017009766.1:c.5157T>C XP_016865255.1:p.Thr1719=
XM_024446183.1:c.8325T>C XP_024301951.1:p.Thr2775=
XM_024446184.1:c.8196T>C XP_024301952.1:p.Thr2732=
XM_024446185.1:c.7842T>C XP_024301953.1:p.Thr2614=
XM_024446186.1:c.7521T>C XP_024301954.1:p.Thr2507=
XR_001742208.1:n.8683T>C
XR_925644.2:n.8738T>C
NM_001384732.1:c.8514T>C MANE Select NP_001371661.1:p.Thr2838=
NM_023073.4:c.8352T>C NP_075561.3:p.Thr2784=