Canonical Allele Identifier: CA359473662

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37153774-G-A
• MyVariant Identifiers: chr5:g.37153876G>A (hg19) ; chr5:g.37153774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153774G>A , CM000667.2:g.37153774G>A	GRCh38
NC_000005.9:g.37153876G>A , CM000667.1:g.37153876G>A	GRCh37
NC_000005.8:g.37189633G>A	NCBI36
NG_032772.1:g.100655C>T
NG_032772.2:g.100655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1338C>T
ENST00000651892.2:c.8339C>T MANE Select	ENSP00000498265.2:p.Pro2780Leu
ENST00000425232.6:c.8177C>T	ENSP00000389014.2:p.Pro2726Leu
ENST00000508244.5:c.8177C>T	ENSP00000421690.1:p.Pro2726Leu
ENST00000508405.1:n.71C>T
ENST00000509849.5:c.5351C>T	ENSP00000426337.1:p.Pro1784Leu
ENST00000509957.5:n.581C>T
ENST00000511824.2:c.1453C>T
ENST00000514429.5:c.5375C>T	ENSP00000424223.1:p.Pro1792Leu
NM_023073.3:c.8177C>T	NP_075561.3:p.Pro2726Leu
XM_005248345.2:c.8339C>T	XP_005248402.1:p.Pro2780Leu
XM_005248346.2:c.8336C>T	XP_005248403.1:p.Pro2779Leu
XM_005248347.2:c.8336C>T	XP_005248404.1:p.Pro2779Leu
XM_005248349.2:c.8228C>T	XP_005248406.1:p.Pro2743Leu
XM_005248350.2:c.8210C>T	XP_005248407.1:p.Pro2737Leu
XM_005248353.3:c.4982C>T	XP_005248410.1:p.Pro1661Leu
XM_006714489.2:c.8339C>T	XP_006714552.1:p.Pro2780Leu
XM_006714491.2:c.2912C>T	XP_006714554.1:p.Pro971Leu
XM_011514085.1:c.8339C>T	XP_011512387.1:p.Pro2780Leu
XM_011514086.1:c.8339C>T	XP_011512388.1:p.Pro2780Leu
XM_011514087.1:c.8285C>T	XP_011512389.1:p.Pro2762Leu
XM_011514088.1:c.8231C>T	XP_011512390.1:p.Pro2744Leu
XM_011514089.1:c.8339C>T	XP_011512391.1:p.Pro2780Leu
XM_011514090.1:c.8021C>T	XP_011512392.1:p.Pro2674Leu
XM_011514091.1:c.7667C>T	XP_011512393.1:p.Pro2556Leu
XM_011514092.1:c.8339C>T	XP_011512394.1:p.Pro2780Leu
XM_011514094.1:c.5564C>T	XP_011512396.1:p.Pro1855Leu
XR_427661.2:n.8514C>T
XR_925644.1:n.8514C>T
XM_005248345.4:c.8339C>T	XP_005248402.1:p.Pro2780Leu
XM_005248346.4:c.8336C>T	XP_005248403.1:p.Pro2779Leu
XM_005248347.4:c.8336C>T	XP_005248404.1:p.Pro2779Leu
XM_005248349.4:c.8228C>T	XP_005248406.1:p.Pro2743Leu
XM_005248350.4:c.8210C>T	XP_005248407.1:p.Pro2737Leu
XM_006714491.3:c.2912C>T	XP_006714554.1:p.Pro971Leu
XM_011514085.3:c.8339C>T	XP_011512387.1:p.Pro2780Leu
XM_011514086.3:c.8339C>T	XP_011512388.1:p.Pro2780Leu
XM_011514087.2:c.8285C>T	XP_011512389.1:p.Pro2762Leu
XM_011514088.2:c.8231C>T	XP_011512390.1:p.Pro2744Leu
XM_011514089.2:c.8339C>T	XP_011512391.1:p.Pro2780Leu
XM_011514090.3:c.8021C>T	XP_011512392.1:p.Pro2674Leu
XM_011514092.2:c.8339C>T	XP_011512394.1:p.Pro2780Leu
XM_011514094.2:c.5564C>T	XP_011512396.1:p.Pro1855Leu
XM_017009760.1:c.8150C>T	XP_016865249.1:p.Pro2717Leu
XM_017009761.2:c.8150C>T	XP_016865250.1:p.Pro2717Leu
XM_017009763.1:c.7346C>T	XP_016865252.1:p.Pro2449Leu
XM_017009765.1:c.7151C>T	XP_016865254.1:p.Pro2384Leu
XM_017009766.1:c.4982C>T	XP_016865255.1:p.Pro1661Leu
XM_024446183.1:c.8150C>T	XP_024301951.1:p.Pro2717Leu
XM_024446184.1:c.8021C>T	XP_024301952.1:p.Pro2674Leu
XM_024446185.1:c.7667C>T	XP_024301953.1:p.Pro2556Leu
XM_024446186.1:c.7346C>T	XP_024301954.1:p.Pro2449Leu
XR_001742208.1:n.8508C>T
XR_002956171.1:n.8454C>T
XR_925644.2:n.8563C>T
NM_001384732.1:c.8339C>T MANE Select	NP_001371661.1:p.Pro2780Leu
NM_023073.4:c.8177C>T	NP_075561.3:p.Pro2726Leu