Canonical Allele Identifier: CA2179834119
Community Standard Title: NM_032866.5(CGNL1):c.2403+8703C=
Gene: CGNL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.57470595C= , CM000677.2:g.57470595C= GRCh38
NC_000015.9:g.57762793C= , CM000677.1:g.57762793C= GRCh37
NC_000015.8:g.55550085C= NCBI36
NG_030584.1:g.99091C=
NG_030584.2:g.99091C=

Transcript Alleles

HGVS Amino-acid Change
NM_032866.5:c.2403+8703C= MANE Select NP_116255.2:n.2403+8703C=
ENST00000281282.6:c.2403+8703C= MANE Select ENSP00000281282.5:n.2403+8703C=
NM_001252335.1:c.2403+8703C= NP_001239264.1:n.2403+8703C=
NM_001252335.2:c.2403+8703C= NP_001239264.1:n.2403+8703C=
NM_032866.4:c.2403+8703C= NP_116255.2:n.2403+8703C=
ENST00000281282.5:c.2403+8703C= ENSP00000281282.5:n.2403+8703C=
XM_005254726.2:c.2403+8703C= XP_005254783.1:n.2403+8703C=
XM_005254726.4:c.2403+8703C= XP_005254783.1:n.2403+8703C=
XM_005254727.3:c.2403+8703C= XP_005254784.1:n.2403+8703C=
XM_005254727.5:c.2403+8703C= XP_005254784.1:n.2403+8703C=
XM_011522119.1:c.2403+8703C= XP_011520421.1:n.2403+8703C=
XM_011522120.1:c.2403+8703C= XP_011520422.1:n.2403+8703C=
XM_011522121.1:c.2403+8703C= XP_011520423.1:n.2403+8703C=
XM_011522121.2:c.2403+8703C= XP_011520423.1:n.2403+8703C=
XM_017022685.1:c.2403+8703C= XP_016878174.1:n.2403+8703C=
XM_017022686.1:c.2403+8703C= XP_016878175.1:n.2403+8703C=