Canonical Allele Identifier: CA368770897

Gene: RELN

Linked Data

• COSMIC: COSM3876845
• MyVariant Identifiers: chr7:g.103185604T>C (hg19) ; chr7:g.103545157T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545157T>C , CM000669.2:g.103545157T>C	GRCh38
NC_000007.13:g.103185604T>C , CM000669.1:g.103185604T>C	GRCh37
NC_000007.12:g.102972840T>C	NCBI36
NG_011877.1:g.449360A>G
NG_011877.2:g.449360A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6490A>G	ENSP00000388446.3:p.Lys2164Glu
ENST00000428762.6:c.6490A>G MANE Select	ENSP00000392423.1:p.Lys2164Glu
ENST00000679867.1:n.6374A>G
ENST00000679952.1:n.282A>G
ENST00000681034.1:c.6490A>G	ENSP00000506075.1:p.Lys2164Glu
ENST00000681199.1:n.2258A>G
ENST00000343529.9:c.6490A>G	ENSP00000345694.5:p.Lys2164Glu
ENST00000424685.2:c.6490A>G	ENSP00000388446.2:p.Lys2164Glu
ENST00000428762.5:c.6490A>G	ENSP00000392423.1:p.Lys2164Glu
NM_005045.3:c.6490A>G	NP_005036.2:p.Lys2164Glu
NM_173054.2:c.6490A>G	NP_774959.1:p.Lys2164Glu
NM_005045.4:c.6490A>G MANE Select	NP_005036.2:p.Lys2164Glu
NM_173054.3:c.6490A>G	NP_774959.1:p.Lys2164Glu