Canonical Allele Identifier: CA368767849

Gene: RELN

Linked Data

• COSMIC: COSM4618652
• MyVariant Identifiers: chr7:g.103163918C>A (hg19) ; chr7:g.103523471C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103523471C>A , CM000669.2:g.103523471C>A	GRCh38
NC_000007.13:g.103163918C>A , CM000669.1:g.103163918C>A	GRCh37
NC_000007.12:g.102951154C>A	NCBI36
NG_011877.1:g.471046G>T
NG_011877.2:g.471046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.7410G>T	ENSP00000388446.3:p.Trp2470Cys
ENST00000428762.6:c.7410G>T MANE Select	ENSP00000392423.1:p.Trp2470Cys
ENST00000478148.2:n.651G>T
ENST00000679867.1:n.7294G>T
ENST00000679952.1:n.1338G>T
ENST00000681034.1:c.7410G>T	ENSP00000506075.1:p.Trp2470Cys
ENST00000681364.1:n.659G>T
ENST00000343529.9:c.7410G>T	ENSP00000345694.5:p.Trp2470Cys
ENST00000424685.2:c.7410G>T	ENSP00000388446.2:p.Trp2470Cys
ENST00000428762.5:c.7410G>T	ENSP00000392423.1:p.Trp2470Cys
NM_005045.3:c.7410G>T	NP_005036.2:p.Trp2470Cys
NM_173054.2:c.7410G>T	NP_774959.1:p.Trp2470Cys
NM_005045.4:c.7410G>T MANE Select	NP_005036.2:p.Trp2470Cys
NM_173054.3:c.7410G>T	NP_774959.1:p.Trp2470Cys