Canonical Allele Identifier: CA368767858

Gene: RELN

Linked Data

• COSMIC: COSM3876838
• MyVariant Identifiers: chr7:g.103163922G>A (hg19) ; chr7:g.103523475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103523475G>A , CM000669.2:g.103523475G>A	GRCh38
NC_000007.13:g.103163922G>A , CM000669.1:g.103163922G>A	GRCh37
NC_000007.12:g.102951158G>A	NCBI36
NG_011877.1:g.471042C>T
NG_011877.2:g.471042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.7406C>T	ENSP00000388446.3:p.Thr2469Ile
ENST00000428762.6:c.7406C>T MANE Select	ENSP00000392423.1:p.Thr2469Ile
ENST00000478148.2:n.647C>T
ENST00000679867.1:n.7290C>T
ENST00000679952.1:n.1334C>T
ENST00000681034.1:c.7406C>T	ENSP00000506075.1:p.Thr2469Ile
ENST00000681364.1:n.655C>T
ENST00000343529.9:c.7406C>T	ENSP00000345694.5:p.Thr2469Ile
ENST00000424685.2:c.7406C>T	ENSP00000388446.2:p.Thr2469Ile
ENST00000428762.5:c.7406C>T	ENSP00000392423.1:p.Thr2469Ile
NM_005045.3:c.7406C>T	NP_005036.2:p.Thr2469Ile
NM_173054.2:c.7406C>T	NP_774959.1:p.Thr2469Ile
NM_005045.4:c.7406C>T MANE Select	NP_005036.2:p.Thr2469Ile
NM_173054.3:c.7406C>T	NP_774959.1:p.Thr2469Ile