Canonical Allele Identifier: CA3237818

Gene: CPLANE1

Linked Data

• dbSNP Id: rs777345649
• ExAC: 5:37153856 G / C
• gnomAD v2: 5-37153856-G-C
• gnomAD v4: 5-37153754-G-C
• MyVariant Identifiers: chr5:g.37153856G>C (hg19) ; chr5:g.37153754G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153754G>C , CM000667.2:g.37153754G>C	GRCh38
NC_000005.9:g.37153856G>C , CM000667.1:g.37153856G>C	GRCh37
NC_000005.8:g.37189613G>C	NCBI36
NG_032772.1:g.100675C>G
NG_032772.2:g.100675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1358C>G
ENST00000651892.2:c.8359C>G MANE Select	ENSP00000498265.2:p.Leu2787Val
ENST00000425232.6:c.8197C>G	ENSP00000389014.2:p.Leu2733Val
ENST00000508244.5:c.8197C>G	ENSP00000421690.1:p.Leu2733Val
ENST00000508405.1:n.91C>G
ENST00000509849.5:c.5371C>G	ENSP00000426337.1:p.Leu1791Val
ENST00000509957.5:n.601C>G
ENST00000511824.2:c.1473C>G
ENST00000514429.5:c.5395C>G	ENSP00000424223.1:p.Leu1799Val
NM_023073.3:c.8197C>G	NP_075561.3:p.Leu2733Val
XM_005248345.2:c.8359C>G	XP_005248402.1:p.Leu2787Val
XM_005248346.2:c.8356C>G	XP_005248403.1:p.Leu2786Val
XM_005248347.2:c.8356C>G	XP_005248404.1:p.Leu2786Val
XM_005248349.2:c.8248C>G	XP_005248406.1:p.Leu2750Val
XM_005248350.2:c.8230C>G	XP_005248407.1:p.Leu2744Val
XM_005248353.3:c.5002C>G	XP_005248410.1:p.Leu1668Val
XM_006714489.2:c.8359C>G	XP_006714552.1:p.Leu2787Val
XM_006714491.2:c.2932C>G	XP_006714554.1:p.Leu978Val
XM_011514085.1:c.8359C>G	XP_011512387.1:p.Leu2787Val
XM_011514086.1:c.8359C>G	XP_011512388.1:p.Leu2787Val
XM_011514087.1:c.8305C>G	XP_011512389.1:p.Leu2769Val
XM_011514088.1:c.8251C>G	XP_011512390.1:p.Leu2751Val
XM_011514089.1:c.8359C>G	XP_011512391.1:p.Leu2787Val
XM_011514090.1:c.8041C>G	XP_011512392.1:p.Leu2681Val
XM_011514091.1:c.7687C>G	XP_011512393.1:p.Leu2563Val
XM_011514092.1:c.8359C>G	XP_011512394.1:p.Leu2787Val
XM_011514094.1:c.5584C>G	XP_011512396.1:p.Leu1862Val
XR_427661.2:n.8534C>G
XR_925644.1:n.8534C>G
XM_005248345.4:c.8359C>G	XP_005248402.1:p.Leu2787Val
XM_005248346.4:c.8356C>G	XP_005248403.1:p.Leu2786Val
XM_005248347.4:c.8356C>G	XP_005248404.1:p.Leu2786Val
XM_005248349.4:c.8248C>G	XP_005248406.1:p.Leu2750Val
XM_005248350.4:c.8230C>G	XP_005248407.1:p.Leu2744Val
XM_006714491.3:c.2932C>G	XP_006714554.1:p.Leu978Val
XM_011514085.3:c.8359C>G	XP_011512387.1:p.Leu2787Val
XM_011514086.3:c.8359C>G	XP_011512388.1:p.Leu2787Val
XM_011514087.2:c.8305C>G	XP_011512389.1:p.Leu2769Val
XM_011514088.2:c.8251C>G	XP_011512390.1:p.Leu2751Val
XM_011514089.2:c.8359C>G	XP_011512391.1:p.Leu2787Val
XM_011514090.3:c.8041C>G	XP_011512392.1:p.Leu2681Val
XM_011514092.2:c.8359C>G	XP_011512394.1:p.Leu2787Val
XM_011514094.2:c.5584C>G	XP_011512396.1:p.Leu1862Val
XM_017009760.1:c.8170C>G	XP_016865249.1:p.Leu2724Val
XM_017009761.2:c.8170C>G	XP_016865250.1:p.Leu2724Val
XM_017009763.1:c.7366C>G	XP_016865252.1:p.Leu2456Val
XM_017009765.1:c.7171C>G	XP_016865254.1:p.Leu2391Val
XM_017009766.1:c.5002C>G	XP_016865255.1:p.Leu1668Val
XM_024446183.1:c.8170C>G	XP_024301951.1:p.Leu2724Val
XM_024446184.1:c.8041C>G	XP_024301952.1:p.Leu2681Val
XM_024446185.1:c.7687C>G	XP_024301953.1:p.Leu2563Val
XM_024446186.1:c.7366C>G	XP_024301954.1:p.Leu2456Val
XR_001742208.1:n.8528C>G
XR_002956171.1:n.8474C>G
XR_925644.2:n.8583C>G
NM_001384732.1:c.8359C>G MANE Select	NP_001371661.1:p.Leu2787Val
NM_023073.4:c.8197C>G	NP_075561.3:p.Leu2733Val