Canonical Allele Identifier: CA368760167

Gene: RELN

Linked Data

• dbSNP Id: rs1248084722
• gnomAD v2: 7-103275977-G-A
• gnomAD v3: 7-103635530-G-A
• gnomAD v4: 7-103635530-G-A
• MyVariant Identifiers: chr7:g.103275977G>A (hg19) ; chr7:g.103635530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103635530G>A , CM000669.2:g.103635530G>A	GRCh38
NC_000007.13:g.103275977G>A , CM000669.1:g.103275977G>A	GRCh37
NC_000007.12:g.103063213G>A	NCBI36
NG_011877.1:g.358987C>T
NG_011877.2:g.358987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.2360C>T	ENSP00000388446.3:p.Ala787Val
ENST00000428762.6:c.2360C>T MANE Select	ENSP00000392423.1:p.Ala787Val
ENST00000473457.2:n.2624C>T
ENST00000679867.1:n.2244C>T
ENST00000680706.1:n.63C>T
ENST00000680712.1:n.2077C>T
ENST00000681034.1:c.2360C>T	ENSP00000506075.1:p.Ala787Val
ENST00000343529.9:c.2360C>T	ENSP00000345694.5:p.Ala787Val
ENST00000424685.2:c.2360C>T	ENSP00000388446.2:p.Ala787Val
ENST00000428762.5:c.2360C>T	ENSP00000392423.1:p.Ala787Val
NM_005045.3:c.2360C>T	NP_005036.2:p.Ala787Val
NM_173054.2:c.2360C>T	NP_774959.1:p.Ala787Val
NM_005045.4:c.2360C>T MANE Select	NP_005036.2:p.Ala787Val
NM_173054.3:c.2360C>T	NP_774959.1:p.Ala787Val