Canonical Allele Identifier: CA7582564

Gene: CGNL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.57544499C>T , CM000677.2:g.57544499C>T	GRCh38
NC_000015.9:g.57836697C>T , CM000677.1:g.57836697C>T	GRCh37
NC_000015.8:g.55623989C>T	NCBI36
NG_030584.1:g.172995C>T
NG_030584.2:g.172995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281282.6:c.3402C>T MANE Select	ENSP00000281282.5:p.Ile1134=
ENST00000281282.5:c.3402C>T	ENSP00000281282.5:p.Ile1134=
NM_001252335.1:c.3402C>T	NP_001239264.1:p.Ile1134=
NM_032866.4:c.3402C>T	NP_116255.2:p.Ile1134=
XM_005254726.2:c.3402C>T	XP_005254783.1:p.Ile1134=
XM_005254727.3:c.3402C>T	XP_005254784.1:p.Ile1134=
XM_011522119.1:c.3402C>T	XP_011520421.1:p.Ile1134=
XM_011522120.1:c.3402C>T	XP_011520422.1:p.Ile1134=
XM_011522121.1:c.3402C>T	XP_011520423.1:p.Ile1134=
XM_005254726.4:c.3402C>T	XP_005254783.1:p.Ile1134=
XM_005254727.5:c.3402C>T	XP_005254784.1:p.Ile1134=
XM_011522121.2:c.3402C>T	XP_011520423.1:p.Ile1134=
XM_017022685.1:c.3402C>T	XP_016878174.1:p.Ile1134=
XM_017022686.1:c.3402C>T	XP_016878175.1:p.Ile1134=
NM_001252335.2:c.3402C>T	NP_001239264.1:p.Ile1134=
NM_032866.5:c.3402C>T MANE Select	NP_116255.2:p.Ile1134=