Canonical Allele Identifier: CA1730823528
Community Standard Title: NM_005045.4(RELN):c.2213G= (p.Cys738=)
Gene: RELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103636325C= , CM000669.2:g.103636325C= GRCh38
NC_000007.13:g.103276772C= , CM000669.1:g.103276772C= GRCh37
NC_000007.12:g.103064008C= NCBI36
NG_011877.1:g.358192G=
NG_011877.2:g.358192G=

Transcript Alleles

HGVS Amino-acid Change
NM_005045.4:c.2213G= MANE Select NP_005036.2:p.Cys738=
ENST00000428762.6:c.2213G= MANE Select ENSP00000392423.1:p.Cys738=
NM_005045.3:c.2213G= NP_005036.2:p.Cys738=
NM_173054.2:c.2213G= NP_774959.1:p.Cys738=
NM_173054.3:c.2213G= NP_774959.1:p.Cys738=
ENST00000343529.9:c.2213G= ENSP00000345694.5:p.Cys738=
ENST00000424685.2:c.2213G= ENSP00000388446.2:p.Cys738=
ENST00000424685.3:c.2213G= ENSP00000388446.3:p.Cys738=
ENST00000428762.5:c.2213G= ENSP00000392423.1:p.Cys738=
ENST00000473457.2:n.2477G=
ENST00000679867.1:n.2097G=
ENST00000680712.1:n.1930G=
ENST00000681034.1:c.2213G= ENSP00000506075.1:p.Cys738=