Canonical Allele Identifier: CA443921890
Gene: CPLANE1 HGNC NCBI

Linked Data

gnomAD v4: 5-37122432-G-A
MyVariant Identifiers: chr5:g.37122534G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37122432G>A , CM000667.2:g.37122432G>A GRCh38
NC_000005.9:g.37122534G>A , CM000667.1:g.37122534G>A GRCh37
NC_000005.8:g.37158291G>A NCBI36
NG_032772.1:g.131997C>T
NG_032772.2:g.131997C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651892.2:c.9015C>T MANE Select ENSP00000498265.2:p.Asp3005=
ENST00000676160.1:n.876C>T
ENST00000425232.6:c.8853C>T ENSP00000389014.2:p.Asp2951=
ENST00000508244.5:c.8853C>T ENSP00000421690.1:p.Asp2951=
ENST00000509849.5:c.6027C>T ENSP00000426337.1:n.6027C>T
ENST00000512288.5:n.342-648C>T
ENST00000514429.5:c.6051C>T ENSP00000424223.1:p.Asp2017=
NM_023073.3:c.8853C>T NP_075561.3:p.Asp2951=
XM_005248345.2:c.9015C>T XP_005248402.1:p.Asp3005=
XM_005248346.2:c.9012C>T XP_005248403.1:p.Asp3004=
XM_005248347.2:c.9012C>T XP_005248404.1:p.Asp3004=
XM_005248349.2:c.8904C>T XP_005248406.1:p.Asp2968=
XM_005248350.2:c.8886C>T XP_005248407.1:p.Asp2962=
XM_005248353.3:c.5658C>T XP_005248410.1:p.Asp1886=
XM_006714489.2:c.9015C>T XP_006714552.1:p.Asp3005=
XM_006714491.2:c.3588C>T XP_006714554.1:p.Asp1196=
XM_011514085.1:c.9015C>T XP_011512387.1:p.Asp3005=
XM_011514086.1:c.9015C>T XP_011512388.1:p.Asp3005=
XM_011514087.1:c.8961C>T XP_011512389.1:p.Asp2987=
XM_011514088.1:c.8907C>T XP_011512390.1:p.Asp2969=
XM_011514089.1:c.9015C>T XP_011512391.1:p.Asp3005=
XM_011514090.1:c.8697C>T XP_011512392.1:p.Asp2899=
XM_011514091.1:c.8343C>T XP_011512393.1:p.Asp2781=
XM_011514092.1:c.9015C>T XP_011512394.1:p.Asp3005=
XM_011514094.1:c.6240C>T XP_011512396.1:p.Asp2080=
XR_427661.2:n.9190C>T
XR_925644.1:n.9190C>T
XM_005248345.4:c.9015C>T XP_005248402.1:p.Asp3005=
XM_005248346.4:c.9012C>T XP_005248403.1:p.Asp3004=
XM_005248347.4:c.9012C>T XP_005248404.1:p.Asp3004=
XM_005248349.4:c.8904C>T XP_005248406.1:p.Asp2968=
XM_005248350.4:c.8886C>T XP_005248407.1:p.Asp2962=
XM_006714491.3:c.3588C>T XP_006714554.1:p.Asp1196=
XM_011514085.3:c.9015C>T XP_011512387.1:p.Asp3005=
XM_011514086.3:c.9015C>T XP_011512388.1:p.Asp3005=
XM_011514087.2:c.8961C>T XP_011512389.1:p.Asp2987=
XM_011514088.2:c.8907C>T XP_011512390.1:p.Asp2969=
XM_011514089.2:c.9015C>T XP_011512391.1:p.Asp3005=
XM_011514090.3:c.8697C>T XP_011512392.1:p.Asp2899=
XM_011514092.2:c.9015C>T XP_011512394.1:p.Asp3005=
XM_011514094.2:c.6240C>T XP_011512396.1:p.Asp2080=
XM_017009760.1:c.8826C>T XP_016865249.1:p.Asp2942=
XM_017009761.2:c.8826C>T XP_016865250.1:p.Asp2942=
XM_017009763.1:c.8022C>T XP_016865252.1:p.Asp2674=
XM_017009765.1:c.7827C>T XP_016865254.1:p.Asp2609=
XM_017009766.1:c.5658C>T XP_016865255.1:p.Asp1886=
XM_024446183.1:c.8826C>T XP_024301951.1:p.Asp2942=
XM_024446184.1:c.8697C>T XP_024301952.1:p.Asp2899=
XM_024446185.1:c.8343C>T XP_024301953.1:p.Asp2781=
XM_024446186.1:c.8022C>T XP_024301954.1:p.Asp2674=
XR_925644.2:n.9239C>T
NM_001384732.1:c.9015C>T MANE Select NP_001371661.1:p.Asp3005=
NM_023073.4:c.8853C>T NP_075561.3:p.Asp2951=