Canonical Allele Identifier: CA368767879
Gene: RELN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103523483C>G , CM000669.2:g.103523483C>G GRCh38
NC_000007.13:g.103163930C>G , CM000669.1:g.103163930C>G GRCh37
NC_000007.12:g.102951166C>G NCBI36
NG_011877.1:g.471034G>C
NG_011877.2:g.471034G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.7398G>C ENSP00000388446.3:p.Lys2466Asn
ENST00000428762.6:c.7398G>C MANE Select ENSP00000392423.1:p.Lys2466Asn
ENST00000478148.2:n.639G>C
ENST00000679867.1:n.7282G>C
ENST00000679952.1:n.1326G>C
ENST00000681034.1:c.7398G>C ENSP00000506075.1:p.Lys2466Asn
ENST00000681364.1:n.647G>C
ENST00000343529.9:c.7398G>C ENSP00000345694.5:p.Lys2466Asn
ENST00000424685.2:c.7398G>C ENSP00000388446.2:p.Lys2466Asn
ENST00000428762.5:c.7398G>C ENSP00000392423.1:p.Lys2466Asn
NM_005045.3:c.7398G>C NP_005036.2:p.Lys2466Asn
NM_173054.2:c.7398G>C NP_774959.1:p.Lys2466Asn
NM_005045.4:c.7398G>C MANE Select NP_005036.2:p.Lys2466Asn
NM_173054.3:c.7398G>C NP_774959.1:p.Lys2466Asn