Canonical Allele Identifier: CA368765606
Gene: RELN HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.103610714G>T
GRCh37 chr7:g.103251161G>T
Revel Score:
ENST00000428762 (MANE Select) 0.054
ENST00000343529 0.054
ENST00000424685 0.054
ENST00000448171 0.054
gnomAD v3:
7:103610714 G / T
gnomAD v4:
chr7-103610714-G-T
Joint Max Group AF 0.00000447 (AFR)
Genomes Max Group AF 0.000008 (AFR)
dbSNP:
362691
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.2989C>A ENSP00000388446.3:p.Leu997Ile
ENST00000428762.6:c.2989C>A MANE Select ENSP00000392423.1:p.Leu997Ile
ENST00000679867.1:n.2873C>A
ENST00000680706.1:n.692C>A
ENST00000681034.1:c.2989C>A ENSP00000506075.1:p.Leu997Ile
ENST00000343529.9:c.2989C>A ENSP00000345694.5:p.Leu997Ile
ENST00000424685.2:c.2989C>A ENSP00000388446.2:p.Leu997Ile
ENST00000428762.5:c.2989C>A ENSP00000392423.1:p.Leu997Ile
NM_005045.3:c.2989C>A NP_005036.2:p.Leu997Ile
NM_173054.2:c.2989C>A NP_774959.1:p.Leu997Ile
NM_005045.4:c.2989C>A MANE Select NP_005036.2:p.Leu997Ile
NM_173054.3:c.2989C>A NP_774959.1:p.Leu997Ile
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