Canonical Allele Identifier: CA359473898

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37153841-G-A
• MyVariant Identifiers: chr5:g.37153943G>A (hg19) ; chr5:g.37153841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153841G>A , CM000667.2:g.37153841G>A	GRCh38
NC_000005.9:g.37153943G>A , CM000667.1:g.37153943G>A	GRCh37
NC_000005.8:g.37189700G>A	NCBI36
NG_032772.1:g.100588C>T
NG_032772.2:g.100588C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1271C>T
ENST00000651892.2:c.8272C>T MANE Select	ENSP00000498265.2:p.Leu2758Phe
ENST00000425232.6:c.8110C>T	ENSP00000389014.2:p.Leu2704Phe
ENST00000508244.5:c.8110C>T	ENSP00000421690.1:p.Leu2704Phe
ENST00000508405.1:n.4C>T
ENST00000509849.5:c.5284C>T	ENSP00000426337.1:p.Leu1762Phe
ENST00000509957.5:n.514C>T
ENST00000511824.2:c.1386C>T
ENST00000514429.5:c.5308C>T	ENSP00000424223.1:p.Leu1770Phe
NM_023073.3:c.8110C>T	NP_075561.3:p.Leu2704Phe
XM_005248345.2:c.8272C>T	XP_005248402.1:p.Leu2758Phe
XM_005248346.2:c.8269C>T	XP_005248403.1:p.Leu2757Phe
XM_005248347.2:c.8269C>T	XP_005248404.1:p.Leu2757Phe
XM_005248349.2:c.8161C>T	XP_005248406.1:p.Leu2721Phe
XM_005248350.2:c.8143C>T	XP_005248407.1:p.Leu2715Phe
XM_005248353.3:c.4915C>T	XP_005248410.1:p.Leu1639Phe
XM_006714489.2:c.8272C>T	XP_006714552.1:p.Leu2758Phe
XM_006714491.2:c.2845C>T	XP_006714554.1:p.Leu949Phe
XM_011514085.1:c.8272C>T	XP_011512387.1:p.Leu2758Phe
XM_011514086.1:c.8272C>T	XP_011512388.1:p.Leu2758Phe
XM_011514087.1:c.8218C>T	XP_011512389.1:p.Leu2740Phe
XM_011514088.1:c.8164C>T	XP_011512390.1:p.Leu2722Phe
XM_011514089.1:c.8272C>T	XP_011512391.1:p.Leu2758Phe
XM_011514090.1:c.7954C>T	XP_011512392.1:p.Leu2652Phe
XM_011514091.1:c.7600C>T	XP_011512393.1:p.Leu2534Phe
XM_011514092.1:c.8272C>T	XP_011512394.1:p.Leu2758Phe
XM_011514094.1:c.5497C>T	XP_011512396.1:p.Leu1833Phe
XR_427661.2:n.8447C>T
XR_925644.1:n.8447C>T
XM_005248345.4:c.8272C>T	XP_005248402.1:p.Leu2758Phe
XM_005248346.4:c.8269C>T	XP_005248403.1:p.Leu2757Phe
XM_005248347.4:c.8269C>T	XP_005248404.1:p.Leu2757Phe
XM_005248349.4:c.8161C>T	XP_005248406.1:p.Leu2721Phe
XM_005248350.4:c.8143C>T	XP_005248407.1:p.Leu2715Phe
XM_006714491.3:c.2845C>T	XP_006714554.1:p.Leu949Phe
XM_011514085.3:c.8272C>T	XP_011512387.1:p.Leu2758Phe
XM_011514086.3:c.8272C>T	XP_011512388.1:p.Leu2758Phe
XM_011514087.2:c.8218C>T	XP_011512389.1:p.Leu2740Phe
XM_011514088.2:c.8164C>T	XP_011512390.1:p.Leu2722Phe
XM_011514089.2:c.8272C>T	XP_011512391.1:p.Leu2758Phe
XM_011514090.3:c.7954C>T	XP_011512392.1:p.Leu2652Phe
XM_011514092.2:c.8272C>T	XP_011512394.1:p.Leu2758Phe
XM_011514094.2:c.5497C>T	XP_011512396.1:p.Leu1833Phe
XM_017009760.1:c.8083C>T	XP_016865249.1:p.Leu2695Phe
XM_017009761.2:c.8083C>T	XP_016865250.1:p.Leu2695Phe
XM_017009763.1:c.7279C>T	XP_016865252.1:p.Leu2427Phe
XM_017009765.1:c.7084C>T	XP_016865254.1:p.Leu2362Phe
XM_017009766.1:c.4915C>T	XP_016865255.1:p.Leu1639Phe
XM_024446183.1:c.8083C>T	XP_024301951.1:p.Leu2695Phe
XM_024446184.1:c.7954C>T	XP_024301952.1:p.Leu2652Phe
XM_024446185.1:c.7600C>T	XP_024301953.1:p.Leu2534Phe
XM_024446186.1:c.7279C>T	XP_024301954.1:p.Leu2427Phe
XR_001742208.1:n.8441C>T
XR_002956171.1:n.8387C>T
XR_925644.2:n.8496C>T
NM_001384732.1:c.8272C>T MANE Select	NP_001371661.1:p.Leu2758Phe
NM_023073.4:c.8110C>T	NP_075561.3:p.Leu2704Phe