Canonical Allele Identifier: CA443922092
Gene: CPLANE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.37125496A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37125394A>T , CM000667.2:g.37125394A>T GRCh38
NC_000005.9:g.37125496A>T , CM000667.1:g.37125496A>T GRCh37
NC_000005.8:g.37161253A>T NCBI36
NG_032772.1:g.129035T>A
NG_032772.2:g.129035T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1807T>A
ENST00000651892.2:c.8808T>A MANE Select ENSP00000498265.2:p.Ser2936=
ENST00000676160.1:n.669T>A
ENST00000425232.6:c.8646T>A ENSP00000389014.2:p.Ser2882=
ENST00000508244.5:c.8646T>A ENSP00000421690.1:p.Ser2882=
ENST00000509849.5:c.5820T>A ENSP00000426337.1:n.5820T>A
ENST00000509957.5:n.3989T>A
ENST00000512288.5:n.342-3610T>A
ENST00000514429.5:c.5844T>A ENSP00000424223.1:p.Ser1948=
NM_023073.3:c.8646T>A NP_075561.3:p.Ser2882=
XM_005248345.2:c.8808T>A XP_005248402.1:p.Ser2936=
XM_005248346.2:c.8805T>A XP_005248403.1:p.Ser2935=
XM_005248347.2:c.8805T>A XP_005248404.1:p.Ser2935=
XM_005248349.2:c.8697T>A XP_005248406.1:p.Ser2899=
XM_005248350.2:c.8679T>A XP_005248407.1:p.Ser2893=
XM_005248353.3:c.5451T>A XP_005248410.1:p.Ser1817=
XM_006714489.2:c.8808T>A XP_006714552.1:p.Ser2936=
XM_006714491.2:c.3381T>A XP_006714554.1:p.Ser1127=
XM_011514085.1:c.8808T>A XP_011512387.1:p.Ser2936=
XM_011514086.1:c.8808T>A XP_011512388.1:p.Ser2936=
XM_011514087.1:c.8754T>A XP_011512389.1:p.Ser2918=
XM_011514088.1:c.8700T>A XP_011512390.1:p.Ser2900=
XM_011514089.1:c.8808T>A XP_011512391.1:p.Ser2936=
XM_011514090.1:c.8490T>A XP_011512392.1:p.Ser2830=
XM_011514091.1:c.8136T>A XP_011512393.1:p.Ser2712=
XM_011514092.1:c.8808T>A XP_011512394.1:p.Ser2936=
XM_011514094.1:c.6033T>A XP_011512396.1:p.Ser2011=
XR_427661.2:n.8983T>A
XR_925644.1:n.8983T>A
XM_005248345.4:c.8808T>A XP_005248402.1:p.Ser2936=
XM_005248346.4:c.8805T>A XP_005248403.1:p.Ser2935=
XM_005248347.4:c.8805T>A XP_005248404.1:p.Ser2935=
XM_005248349.4:c.8697T>A XP_005248406.1:p.Ser2899=
XM_005248350.4:c.8679T>A XP_005248407.1:p.Ser2893=
XM_006714491.3:c.3381T>A XP_006714554.1:p.Ser1127=
XM_011514085.3:c.8808T>A XP_011512387.1:p.Ser2936=
XM_011514086.3:c.8808T>A XP_011512388.1:p.Ser2936=
XM_011514087.2:c.8754T>A XP_011512389.1:p.Ser2918=
XM_011514088.2:c.8700T>A XP_011512390.1:p.Ser2900=
XM_011514089.2:c.8808T>A XP_011512391.1:p.Ser2936=
XM_011514090.3:c.8490T>A XP_011512392.1:p.Ser2830=
XM_011514092.2:c.8808T>A XP_011512394.1:p.Ser2936=
XM_011514094.2:c.6033T>A XP_011512396.1:p.Ser2011=
XM_017009760.1:c.8619T>A XP_016865249.1:p.Ser2873=
XM_017009761.2:c.8619T>A XP_016865250.1:p.Ser2873=
XM_017009763.1:c.7815T>A XP_016865252.1:p.Ser2605=
XM_017009765.1:c.7620T>A XP_016865254.1:p.Ser2540=
XM_017009766.1:c.5451T>A XP_016865255.1:p.Ser1817=
XM_024446183.1:c.8619T>A XP_024301951.1:p.Ser2873=
XM_024446184.1:c.8490T>A XP_024301952.1:p.Ser2830=
XM_024446185.1:c.8136T>A XP_024301953.1:p.Ser2712=
XM_024446186.1:c.7815T>A XP_024301954.1:p.Ser2605=
XR_001742208.1:n.8977T>A
XR_925644.2:n.9032T>A
NM_001384732.1:c.8808T>A MANE Select NP_001371661.1:p.Ser2936=
NM_023073.4:c.8646T>A NP_075561.3:p.Ser2882=