Canonical Allele Identifier: CA457030896

Gene: RELN

Linked Data

• dbSNP Id: rs1289135212
• gnomAD v2: 7-103185602-T-C
• gnomAD v4: 7-103545155-T-C
• MyVariant Identifiers: chr7:g.103185602T>C (hg19) ; chr7:g.103545155T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545155T>C , CM000669.2:g.103545155T>C	GRCh38
NC_000007.13:g.103185602T>C , CM000669.1:g.103185602T>C	GRCh37
NC_000007.12:g.102972838T>C	NCBI36
NG_011877.1:g.449362A>G
NG_011877.2:g.449362A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6492A>G	ENSP00000388446.3:p.Lys2164=
ENST00000428762.6:c.6492A>G MANE Select	ENSP00000392423.1:p.Lys2164=
ENST00000679867.1:n.6376A>G
ENST00000679952.1:n.284A>G
ENST00000681034.1:c.6492A>G	ENSP00000506075.1:p.Lys2164=
ENST00000681199.1:n.2260A>G
ENST00000343529.9:c.6492A>G	ENSP00000345694.5:p.Lys2164=
ENST00000424685.2:c.6492A>G	ENSP00000388446.2:p.Lys2164=
ENST00000428762.5:c.6492A>G	ENSP00000392423.1:p.Lys2164=
NM_005045.3:c.6492A>G	NP_005036.2:p.Lys2164=
NM_173054.2:c.6492A>G	NP_774959.1:p.Lys2164=
NM_005045.4:c.6492A>G MANE Select	NP_005036.2:p.Lys2164=
NM_173054.3:c.6492A>G	NP_774959.1:p.Lys2164=