Canonical Allele Identifier: CA368771215

Gene: RELN

Linked Data

• MyVariant Identifiers: chr7:g.103185745G>T (hg19) ; chr7:g.103545298G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545298G>T , CM000669.2:g.103545298G>T	GRCh38
NC_000007.13:g.103185745G>T , CM000669.1:g.103185745G>T	GRCh37
NC_000007.12:g.102972981G>T	NCBI36
NG_011877.1:g.449219C>A
NG_011877.2:g.449219C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6349C>A	ENSP00000388446.3:p.Gln2117Lys
ENST00000428762.6:c.6349C>A MANE Select	ENSP00000392423.1:p.Gln2117Lys
ENST00000679867.1:n.6233C>A
ENST00000679952.1:n.141C>A
ENST00000681034.1:c.6349C>A	ENSP00000506075.1:p.Gln2117Lys
ENST00000681199.1:n.2117C>A
ENST00000343529.9:c.6349C>A	ENSP00000345694.5:p.Gln2117Lys
ENST00000424685.2:c.6349C>A	ENSP00000388446.2:p.Gln2117Lys
ENST00000428762.5:c.6349C>A	ENSP00000392423.1:p.Gln2117Lys
NM_005045.3:c.6349C>A	NP_005036.2:p.Gln2117Lys
NM_173054.2:c.6349C>A	NP_774959.1:p.Gln2117Lys
NM_005045.4:c.6349C>A MANE Select	NP_005036.2:p.Gln2117Lys
NM_173054.3:c.6349C>A	NP_774959.1:p.Gln2117Lys