Canonical Allele Identifier: CA14171001

Gene: CGNL1

Genomic Alleles

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

Transcript Alleles

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