Canonical Allele Identifier: CA359476399
Gene: CPLANE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37165607T>G , CM000667.2:g.37165607T>G GRCh38
NC_000005.9:g.37165709T>G , CM000667.1:g.37165709T>G GRCh37
NC_000005.8:g.37201466T>G NCBI36
NG_032772.1:g.88822A>C
NG_032772.2:g.88822A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651892.2:c.7465A>C MANE Select ENSP00000498265.2:p.Asn2489His
ENST00000675149.1:n.585A>C
ENST00000425232.6:c.7465A>C ENSP00000389014.2:p.Asn2489His
ENST00000508244.5:c.7465A>C ENSP00000421690.1:p.Asn2489His
ENST00000509849.5:c.4477A>C ENSP00000426337.1:p.Asn1493His
ENST00000511824.2:c.537A>C
ENST00000514429.5:c.4609A>C ENSP00000424223.1:p.Asn1537His
NM_023073.3:c.7465A>C NP_075561.3:p.Asn2489His
XM_005248345.2:c.7465A>C XP_005248402.1:p.Asn2489His
XM_005248346.2:c.7462A>C XP_005248403.1:p.Asn2488His
XM_005248347.2:c.7462A>C XP_005248404.1:p.Asn2488His
XM_005248349.2:c.7462A>C XP_005248406.1:p.Asn2488His
XM_005248350.2:c.7336A>C XP_005248407.1:p.Asn2446His
XM_005248353.3:c.4108A>C XP_005248410.1:p.Asn1370His
XM_006714489.2:c.7465A>C XP_006714552.1:p.Asn2489His
XM_006714491.2:c.2038A>C XP_006714554.1:p.Asn680His
XM_011514085.1:c.7465A>C XP_011512387.1:p.Asn2489His
XM_011514086.1:c.7465A>C XP_011512388.1:p.Asn2489His
XM_011514087.1:c.7465A>C XP_011512389.1:p.Asn2489His
XM_011514088.1:c.7465A>C XP_011512390.1:p.Asn2489His
XM_011514089.1:c.7465A>C XP_011512391.1:p.Asn2489His
XM_011514090.1:c.7147A>C XP_011512392.1:p.Asn2383His
XM_011514091.1:c.6793A>C XP_011512393.1:p.Asn2265His
XM_011514092.1:c.7465A>C XP_011512394.1:p.Asn2489His
XM_011514093.1:c.7465A>C XP_011512395.1:p.Asn2489His
XM_011514094.1:c.4690A>C XP_011512396.1:p.Asn1564His
XR_427661.2:n.7640A>C
XR_925644.1:n.7640A>C
XM_005248345.4:c.7465A>C XP_005248402.1:p.Asn2489His
XM_005248346.4:c.7462A>C XP_005248403.1:p.Asn2488His
XM_005248347.4:c.7462A>C XP_005248404.1:p.Asn2488His
XM_005248349.4:c.7462A>C XP_005248406.1:p.Asn2488His
XM_005248350.4:c.7336A>C XP_005248407.1:p.Asn2446His
XM_006714491.3:c.2038A>C XP_006714554.1:p.Asn680His
XM_011514085.3:c.7465A>C XP_011512387.1:p.Asn2489His
XM_011514086.3:c.7465A>C XP_011512388.1:p.Asn2489His
XM_011514087.2:c.7465A>C XP_011512389.1:p.Asn2489His
XM_011514088.2:c.7465A>C XP_011512390.1:p.Asn2489His
XM_011514089.2:c.7465A>C XP_011512391.1:p.Asn2489His
XM_011514090.3:c.7147A>C XP_011512392.1:p.Asn2383His
XM_011514092.2:c.7465A>C XP_011512394.1:p.Asn2489His
XM_011514094.2:c.4690A>C XP_011512396.1:p.Asn1564His
XM_017009760.1:c.7276A>C XP_016865249.1:p.Asn2426His
XM_017009761.2:c.7276A>C XP_016865250.1:p.Asn2426His
XM_017009763.1:c.6472A>C XP_016865252.1:p.Asn2158His
XM_017009765.1:c.6277A>C XP_016865254.1:p.Asn2093His
XM_017009766.1:c.4108A>C XP_016865255.1:p.Asn1370His
XM_024446183.1:c.7276A>C XP_024301951.1:p.Asn2426His
XM_024446184.1:c.7147A>C XP_024301952.1:p.Asn2383His
XM_024446185.1:c.6793A>C XP_024301953.1:p.Asn2265His
XM_024446186.1:c.6472A>C XP_024301954.1:p.Asn2158His
XR_001742208.1:n.7689A>C
XR_002956171.1:n.7689A>C
XR_925644.2:n.7689A>C
NM_001384732.1:c.7465A>C MANE Select NP_001371661.1:p.Asn2489His
NM_023073.4:c.7465A>C NP_075561.3:p.Asn2489His