Canonical Allele Identifier: CA359474383

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37154077A>T (hg19) ; chr5:g.37153975A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153975A>T , CM000667.2:g.37153975A>T	GRCh38
NC_000005.9:g.37154077A>T , CM000667.1:g.37154077A>T	GRCh37
NC_000005.8:g.37189834A>T	NCBI36
NG_032772.1:g.100454T>A
NG_032772.2:g.100454T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1137T>A
ENST00000651892.2:c.8138T>A MANE Select	ENSP00000498265.2:p.Phe2713Tyr
ENST00000425232.6:c.7976T>A	ENSP00000389014.2:p.Phe2659Tyr
ENST00000508244.5:c.7976T>A	ENSP00000421690.1:p.Phe2659Tyr
ENST00000509849.5:c.5150T>A	ENSP00000426337.1:p.Phe1717Tyr
ENST00000509957.5:n.380T>A
ENST00000511210.5:n.429T>A
ENST00000511824.2:c.1252T>A
ENST00000514429.5:c.5174T>A	ENSP00000424223.1:p.Phe1725Tyr
ENST00000515380.1:n.390T>A
NM_023073.3:c.7976T>A	NP_075561.3:p.Phe2659Tyr
XM_005248345.2:c.8138T>A	XP_005248402.1:p.Phe2713Tyr
XM_005248346.2:c.8135T>A	XP_005248403.1:p.Phe2712Tyr
XM_005248347.2:c.8135T>A	XP_005248404.1:p.Phe2712Tyr
XM_005248349.2:c.8027T>A	XP_005248406.1:p.Phe2676Tyr
XM_005248350.2:c.8009T>A	XP_005248407.1:p.Phe2670Tyr
XM_005248353.3:c.4781T>A	XP_005248410.1:p.Phe1594Tyr
XM_006714489.2:c.8138T>A	XP_006714552.1:p.Phe2713Tyr
XM_006714491.2:c.2711T>A	XP_006714554.1:p.Phe904Tyr
XM_011514085.1:c.8138T>A	XP_011512387.1:p.Phe2713Tyr
XM_011514086.1:c.8138T>A	XP_011512388.1:p.Phe2713Tyr
XM_011514087.1:c.8084T>A	XP_011512389.1:p.Phe2695Tyr
XM_011514088.1:c.8030T>A	XP_011512390.1:p.Phe2677Tyr
XM_011514089.1:c.8138T>A	XP_011512391.1:p.Phe2713Tyr
XM_011514090.1:c.7820T>A	XP_011512392.1:p.Phe2607Tyr
XM_011514091.1:c.7466T>A	XP_011512393.1:p.Phe2489Tyr
XM_011514092.1:c.8138T>A	XP_011512394.1:p.Phe2713Tyr
XM_011514094.1:c.5363T>A	XP_011512396.1:p.Phe1788Tyr
XR_427661.2:n.8313T>A
XR_925644.1:n.8313T>A
XM_005248345.4:c.8138T>A	XP_005248402.1:p.Phe2713Tyr
XM_005248346.4:c.8135T>A	XP_005248403.1:p.Phe2712Tyr
XM_005248347.4:c.8135T>A	XP_005248404.1:p.Phe2712Tyr
XM_005248349.4:c.8027T>A	XP_005248406.1:p.Phe2676Tyr
XM_005248350.4:c.8009T>A	XP_005248407.1:p.Phe2670Tyr
XM_006714491.3:c.2711T>A	XP_006714554.1:p.Phe904Tyr
XM_011514085.3:c.8138T>A	XP_011512387.1:p.Phe2713Tyr
XM_011514086.3:c.8138T>A	XP_011512388.1:p.Phe2713Tyr
XM_011514087.2:c.8084T>A	XP_011512389.1:p.Phe2695Tyr
XM_011514088.2:c.8030T>A	XP_011512390.1:p.Phe2677Tyr
XM_011514089.2:c.8138T>A	XP_011512391.1:p.Phe2713Tyr
XM_011514090.3:c.7820T>A	XP_011512392.1:p.Phe2607Tyr
XM_011514092.2:c.8138T>A	XP_011512394.1:p.Phe2713Tyr
XM_011514094.2:c.5363T>A	XP_011512396.1:p.Phe1788Tyr
XM_017009760.1:c.7949T>A	XP_016865249.1:p.Phe2650Tyr
XM_017009761.2:c.7949T>A	XP_016865250.1:p.Phe2650Tyr
XM_017009763.1:c.7145T>A	XP_016865252.1:p.Phe2382Tyr
XM_017009765.1:c.6950T>A	XP_016865254.1:p.Phe2317Tyr
XM_017009766.1:c.4781T>A	XP_016865255.1:p.Phe1594Tyr
XM_024446183.1:c.7949T>A	XP_024301951.1:p.Phe2650Tyr
XM_024446184.1:c.7820T>A	XP_024301952.1:p.Phe2607Tyr
XM_024446185.1:c.7466T>A	XP_024301953.1:p.Phe2489Tyr
XM_024446186.1:c.7145T>A	XP_024301954.1:p.Phe2382Tyr
XR_001742208.1:n.8307T>A
XR_002956171.1:n.8253T>A
XR_925644.2:n.8362T>A
NM_001384732.1:c.8138T>A MANE Select	NP_001371661.1:p.Phe2713Tyr
NM_023073.4:c.7976T>A	NP_075561.3:p.Phe2659Tyr