Canonical Allele Identifier: CA368771025
Gene: RELN HGNC NCBI

Linked Data

ClinVar Variation Id: 864718
ClinVar RCV Id: RCV001071967
dbSNP Id: rs776658515

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103545216T>A , CM000669.2:g.103545216T>A GRCh38
NC_000007.13:g.103185663T>A , CM000669.1:g.103185663T>A GRCh37
NC_000007.12:g.102972899T>A NCBI36
NG_011877.1:g.449301A>T
NG_011877.2:g.449301A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.6431A>T ENSP00000388446.3:p.Asn2144Ile
ENST00000428762.6:c.6431A>T MANE Select ENSP00000392423.1:p.Asn2144Ile
ENST00000679867.1:n.6315A>T
ENST00000679952.1:n.223A>T
ENST00000681034.1:c.6431A>T ENSP00000506075.1:p.Asn2144Ile
ENST00000681199.1:n.2199A>T
ENST00000343529.9:c.6431A>T ENSP00000345694.5:p.Asn2144Ile
ENST00000424685.2:c.6431A>T ENSP00000388446.2:p.Asn2144Ile
ENST00000428762.5:c.6431A>T ENSP00000392423.1:p.Asn2144Ile
NM_005045.3:c.6431A>T NP_005036.2:p.Asn2144Ile
NM_173054.2:c.6431A>T NP_774959.1:p.Asn2144Ile
NM_005045.4:c.6431A>T MANE Select NP_005036.2:p.Asn2144Ile
NM_173054.3:c.6431A>T NP_774959.1:p.Asn2144Ile