Canonical Allele Identifier: CA368927966

Gene: RELN

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103700925T>A , CM000669.2:g.103700925T>A	GRCh38
NC_000007.13:g.103341372T>A , CM000669.1:g.103341372T>A	GRCh37
NC_000007.12:g.103128608T>A	NCBI36
NG_011877.1:g.293592A>T
NG_011877.2:g.293592A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.887A>T	ENSP00000388446.3:p.Gln296Leu
ENST00000428762.6:c.887A>T MANE Select	ENSP00000392423.1:p.Gln296Leu
ENST00000473457.2:n.1151A>T
ENST00000679867.1:n.771A>T
ENST00000680712.1:n.620-2832A>T
ENST00000681034.1:c.887A>T	ENSP00000506075.1:p.Gln296Leu
ENST00000681931.1:n.771A>T
ENST00000343529.9:c.887A>T	ENSP00000345694.5:p.Gln296Leu
ENST00000424685.2:c.887A>T	ENSP00000388446.2:p.Gln296Leu
ENST00000428762.5:c.887A>T	ENSP00000392423.1:p.Gln296Leu
NM_005045.3:c.887A>T	NP_005036.2:p.Gln296Leu
NM_173054.2:c.887A>T	NP_774959.1:p.Gln296Leu
NM_005045.4:c.887A>T MANE Select	NP_005036.2:p.Gln296Leu
NM_173054.3:c.887A>T	NP_774959.1:p.Gln296Leu