Canonical Allele Identifier: CA368767696
Gene: RELN HGNC NCBI

Linked Data

ClinVar Variation Id: 2946242
ClinVar RCV Id: RCV003806528
dbSNP Id: rs1829753423

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103523406A>G , CM000669.2:g.103523406A>G GRCh38
NC_000007.13:g.103163853A>G , CM000669.1:g.103163853A>G GRCh37
NC_000007.12:g.102951089A>G NCBI36
NG_011877.1:g.471111T>C
NG_011877.2:g.471111T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.7475T>C ENSP00000388446.3:p.Ile2492Thr
ENST00000428762.6:c.7475T>C MANE Select ENSP00000392423.1:p.Ile2492Thr
ENST00000478148.2:n.716T>C
ENST00000679867.1:n.7359T>C
ENST00000679952.1:n.1403T>C
ENST00000681034.1:c.7475T>C ENSP00000506075.1:p.Ile2492Thr
ENST00000681364.1:n.724T>C
ENST00000343529.9:c.7475T>C ENSP00000345694.5:p.Ile2492Thr
ENST00000424685.2:c.7475T>C ENSP00000388446.2:p.Ile2492Thr
ENST00000428762.5:c.7475T>C ENSP00000392423.1:p.Ile2492Thr
NM_005045.3:c.7475T>C NP_005036.2:p.Ile2492Thr
NM_173054.2:c.7475T>C NP_774959.1:p.Ile2492Thr
NM_005045.4:c.7475T>C MANE Select NP_005036.2:p.Ile2492Thr
NM_173054.3:c.7475T>C NP_774959.1:p.Ile2492Thr