Canonical Allele Identifier: CA368767696

Gene: RELN

Linked Data

• ClinVar Variation Id: 2946242
• ClinVar RCV Id: RCV003806528
• dbSNP Id: rs1829753423
• MyVariant Identifiers: chr7:g.103163853A>G (hg19) ; chr7:g.103523406A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103523406A>G , CM000669.2:g.103523406A>G	GRCh38
NC_000007.13:g.103163853A>G , CM000669.1:g.103163853A>G	GRCh37
NC_000007.12:g.102951089A>G	NCBI36
NG_011877.1:g.471111T>C
NG_011877.2:g.471111T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.7475T>C	ENSP00000388446.3:p.Ile2492Thr
ENST00000428762.6:c.7475T>C MANE Select	ENSP00000392423.1:p.Ile2492Thr
ENST00000478148.2:n.716T>C
ENST00000679867.1:n.7359T>C
ENST00000679952.1:n.1403T>C
ENST00000681034.1:c.7475T>C	ENSP00000506075.1:p.Ile2492Thr
ENST00000681364.1:n.724T>C
ENST00000343529.9:c.7475T>C	ENSP00000345694.5:p.Ile2492Thr
ENST00000424685.2:c.7475T>C	ENSP00000388446.2:p.Ile2492Thr
ENST00000428762.5:c.7475T>C	ENSP00000392423.1:p.Ile2492Thr
NM_005045.3:c.7475T>C	NP_005036.2:p.Ile2492Thr
NM_173054.2:c.7475T>C	NP_774959.1:p.Ile2492Thr
NM_005045.4:c.7475T>C MANE Select	NP_005036.2:p.Ile2492Thr
NM_173054.3:c.7475T>C	NP_774959.1:p.Ile2492Thr