Canonical Allele Identifier: CA1730811973
Gene: RELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103610714G= , CM000669.2:g.103610714G= GRCh38
NC_000007.13:g.103251161G= , CM000669.1:g.103251161G= GRCh37
NC_000007.12:g.103038397G= NCBI36
NG_011877.1:g.383803C=
NG_011877.2:g.383803C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.2989C= ENSP00000388446.3:p.Leu997=
ENST00000428762.6:c.2989C= MANE Select ENSP00000392423.1:p.Leu997=
ENST00000679867.1:n.2873C=
ENST00000680706.1:n.692C=
ENST00000681034.1:c.2989C= ENSP00000506075.1:p.Leu997=
ENST00000343529.9:c.2989C= ENSP00000345694.5:p.Leu997=
ENST00000424685.2:c.2989C= ENSP00000388446.2:p.Leu997=
ENST00000428762.5:c.2989C= ENSP00000392423.1:p.Leu997=
NM_005045.3:c.2989C= NP_005036.2:p.Leu997=
NM_173054.2:c.2989C= NP_774959.1:p.Leu997=
NM_005045.4:c.2989C= MANE Select NP_005036.2:p.Leu997=
NM_173054.3:c.2989C= NP_774959.1:p.Leu997=