Canonical Allele Identifier: CA359474426

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37153987-G-C
• MyVariant Identifiers: chr5:g.37154089G>C (hg19) ; chr5:g.37153987G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153987G>C , CM000667.2:g.37153987G>C	GRCh38
NC_000005.9:g.37154089G>C , CM000667.1:g.37154089G>C	GRCh37
NC_000005.8:g.37189846G>C	NCBI36
NG_032772.1:g.100442C>G
NG_032772.2:g.100442C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1125C>G
ENST00000651892.2:c.8126C>G MANE Select	ENSP00000498265.2:p.Pro2709Arg
ENST00000425232.6:c.7964C>G	ENSP00000389014.2:p.Pro2655Arg
ENST00000508244.5:c.7964C>G	ENSP00000421690.1:p.Pro2655Arg
ENST00000509849.5:c.5138C>G	ENSP00000426337.1:p.Pro1713Arg
ENST00000509957.5:n.368C>G
ENST00000511210.5:n.417C>G
ENST00000511824.2:c.1240C>G
ENST00000514429.5:c.5162C>G	ENSP00000424223.1:p.Pro1721Arg
ENST00000515380.1:n.378C>G
NM_023073.3:c.7964C>G	NP_075561.3:p.Pro2655Arg
XM_005248345.2:c.8126C>G	XP_005248402.1:p.Pro2709Arg
XM_005248346.2:c.8123C>G	XP_005248403.1:p.Pro2708Arg
XM_005248347.2:c.8123C>G	XP_005248404.1:p.Pro2708Arg
XM_005248349.2:c.8015C>G	XP_005248406.1:p.Pro2672Arg
XM_005248350.2:c.7997C>G	XP_005248407.1:p.Pro2666Arg
XM_005248353.3:c.4769C>G	XP_005248410.1:p.Pro1590Arg
XM_006714489.2:c.8126C>G	XP_006714552.1:p.Pro2709Arg
XM_006714491.2:c.2699C>G	XP_006714554.1:p.Pro900Arg
XM_011514085.1:c.8126C>G	XP_011512387.1:p.Pro2709Arg
XM_011514086.1:c.8126C>G	XP_011512388.1:p.Pro2709Arg
XM_011514087.1:c.8072C>G	XP_011512389.1:p.Pro2691Arg
XM_011514088.1:c.8018C>G	XP_011512390.1:p.Pro2673Arg
XM_011514089.1:c.8126C>G	XP_011512391.1:p.Pro2709Arg
XM_011514090.1:c.7808C>G	XP_011512392.1:p.Pro2603Arg
XM_011514091.1:c.7454C>G	XP_011512393.1:p.Pro2485Arg
XM_011514092.1:c.8126C>G	XP_011512394.1:p.Pro2709Arg
XM_011514094.1:c.5351C>G	XP_011512396.1:p.Pro1784Arg
XR_427661.2:n.8301C>G
XR_925644.1:n.8301C>G
XM_005248345.4:c.8126C>G	XP_005248402.1:p.Pro2709Arg
XM_005248346.4:c.8123C>G	XP_005248403.1:p.Pro2708Arg
XM_005248347.4:c.8123C>G	XP_005248404.1:p.Pro2708Arg
XM_005248349.4:c.8015C>G	XP_005248406.1:p.Pro2672Arg
XM_005248350.4:c.7997C>G	XP_005248407.1:p.Pro2666Arg
XM_006714491.3:c.2699C>G	XP_006714554.1:p.Pro900Arg
XM_011514085.3:c.8126C>G	XP_011512387.1:p.Pro2709Arg
XM_011514086.3:c.8126C>G	XP_011512388.1:p.Pro2709Arg
XM_011514087.2:c.8072C>G	XP_011512389.1:p.Pro2691Arg
XM_011514088.2:c.8018C>G	XP_011512390.1:p.Pro2673Arg
XM_011514089.2:c.8126C>G	XP_011512391.1:p.Pro2709Arg
XM_011514090.3:c.7808C>G	XP_011512392.1:p.Pro2603Arg
XM_011514092.2:c.8126C>G	XP_011512394.1:p.Pro2709Arg
XM_011514094.2:c.5351C>G	XP_011512396.1:p.Pro1784Arg
XM_017009760.1:c.7937C>G	XP_016865249.1:p.Pro2646Arg
XM_017009761.2:c.7937C>G	XP_016865250.1:p.Pro2646Arg
XM_017009763.1:c.7133C>G	XP_016865252.1:p.Pro2378Arg
XM_017009765.1:c.6938C>G	XP_016865254.1:p.Pro2313Arg
XM_017009766.1:c.4769C>G	XP_016865255.1:p.Pro1590Arg
XM_024446183.1:c.7937C>G	XP_024301951.1:p.Pro2646Arg
XM_024446184.1:c.7808C>G	XP_024301952.1:p.Pro2603Arg
XM_024446185.1:c.7454C>G	XP_024301953.1:p.Pro2485Arg
XM_024446186.1:c.7133C>G	XP_024301954.1:p.Pro2378Arg
XR_001742208.1:n.8295C>G
XR_002956171.1:n.8241C>G
XR_925644.2:n.8350C>G
NM_001384732.1:c.8126C>G MANE Select	NP_001371661.1:p.Pro2709Arg
NM_023073.4:c.7964C>G	NP_075561.3:p.Pro2655Arg