Canonical Allele Identifier: CA443920135
Gene: CPLANE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.37165662T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37165560T>A , CM000667.2:g.37165560T>A GRCh38
NC_000005.9:g.37165662T>A , CM000667.1:g.37165662T>A GRCh37
NC_000005.8:g.37201419T>A NCBI36
NG_032772.1:g.88869A>T
NG_032772.2:g.88869A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651892.2:c.7512A>T MANE Select ENSP00000498265.2:p.Ser2504=
ENST00000675149.1:n.632A>T
ENST00000425232.6:c.7512A>T ENSP00000389014.2:p.Ser2504=
ENST00000508244.5:c.7512A>T ENSP00000421690.1:p.Ser2504=
ENST00000509849.5:c.4524A>T ENSP00000426337.1:p.Ser1508=
ENST00000511824.2:c.584A>T
ENST00000514429.5:c.4656A>T ENSP00000424223.1:p.Ser1552=
NM_023073.3:c.7512A>T NP_075561.3:p.Ser2504=
XM_005248345.2:c.7512A>T XP_005248402.1:p.Ser2504=
XM_005248346.2:c.7509A>T XP_005248403.1:p.Ser2503=
XM_005248347.2:c.7509A>T XP_005248404.1:p.Ser2503=
XM_005248349.2:c.7509A>T XP_005248406.1:p.Ser2503=
XM_005248350.2:c.7383A>T XP_005248407.1:p.Ser2461=
XM_005248353.3:c.4155A>T XP_005248410.1:p.Ser1385=
XM_006714489.2:c.7512A>T XP_006714552.1:p.Ser2504=
XM_006714491.2:c.2085A>T XP_006714554.1:p.Ser695=
XM_011514085.1:c.7512A>T XP_011512387.1:p.Ser2504=
XM_011514086.1:c.7512A>T XP_011512388.1:p.Ser2504=
XM_011514087.1:c.7512A>T XP_011512389.1:p.Ser2504=
XM_011514088.1:c.7512A>T XP_011512390.1:p.Ser2504=
XM_011514089.1:c.7512A>T XP_011512391.1:p.Ser2504=
XM_011514090.1:c.7194A>T XP_011512392.1:p.Ser2398=
XM_011514091.1:c.6840A>T XP_011512393.1:p.Ser2280=
XM_011514092.1:c.7512A>T XP_011512394.1:p.Ser2504=
XM_011514093.1:c.7512A>T XP_011512395.1:p.Ser2504=
XM_011514094.1:c.4737A>T XP_011512396.1:p.Ser1579=
XR_427661.2:n.7687A>T
XR_925644.1:n.7687A>T
XM_005248345.4:c.7512A>T XP_005248402.1:p.Ser2504=
XM_005248346.4:c.7509A>T XP_005248403.1:p.Ser2503=
XM_005248347.4:c.7509A>T XP_005248404.1:p.Ser2503=
XM_005248349.4:c.7509A>T XP_005248406.1:p.Ser2503=
XM_005248350.4:c.7383A>T XP_005248407.1:p.Ser2461=
XM_006714491.3:c.2085A>T XP_006714554.1:p.Ser695=
XM_011514085.3:c.7512A>T XP_011512387.1:p.Ser2504=
XM_011514086.3:c.7512A>T XP_011512388.1:p.Ser2504=
XM_011514087.2:c.7512A>T XP_011512389.1:p.Ser2504=
XM_011514088.2:c.7512A>T XP_011512390.1:p.Ser2504=
XM_011514089.2:c.7512A>T XP_011512391.1:p.Ser2504=
XM_011514090.3:c.7194A>T XP_011512392.1:p.Ser2398=
XM_011514092.2:c.7512A>T XP_011512394.1:p.Ser2504=
XM_011514094.2:c.4737A>T XP_011512396.1:p.Ser1579=
XM_017009760.1:c.7323A>T XP_016865249.1:p.Ser2441=
XM_017009761.2:c.7323A>T XP_016865250.1:p.Ser2441=
XM_017009763.1:c.6519A>T XP_016865252.1:p.Ser2173=
XM_017009765.1:c.6324A>T XP_016865254.1:p.Ser2108=
XM_017009766.1:c.4155A>T XP_016865255.1:p.Ser1385=
XM_024446183.1:c.7323A>T XP_024301951.1:p.Ser2441=
XM_024446184.1:c.7194A>T XP_024301952.1:p.Ser2398=
XM_024446185.1:c.6840A>T XP_024301953.1:p.Ser2280=
XM_024446186.1:c.6519A>T XP_024301954.1:p.Ser2173=
XR_001742208.1:n.7736A>T
XR_002956171.1:n.7736A>T
XR_925644.2:n.7736A>T
NM_001384732.1:c.7512A>T MANE Select NP_001371661.1:p.Ser2504=
NM_023073.4:c.7512A>T NP_075561.3:p.Ser2504=