Canonical Allele Identifier: CA368766943

Gene: RELN

Linked Data

• dbSNP Id: rs1057517814
• gnomAD v2: 7-103162531-C-G
• gnomAD v4: 7-103522084-C-G
• MyVariant Identifiers: chr7:g.103162531C>G (hg19) ; chr7:g.103522084C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103522084C>G , CM000669.2:g.103522084C>G	GRCh38
NC_000007.13:g.103162531C>G , CM000669.1:g.103162531C>G	GRCh37
NC_000007.12:g.102949767C>G	NCBI36
NG_011877.1:g.472433G>C
NG_011877.2:g.472433G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000424685.3:c.7606G>C	ENSP00000388446.3:p.Gly2536Arg
ENST00000428762.6:c.7606G>C MANE Select	ENSP00000392423.1:p.Gly2536Arg
ENST00000478148.2:n.2038G>C
ENST00000679867.1:n.7490G>C
ENST00000679952.1:n.1534G>C
ENST00000680248.1:n.1158G>C
ENST00000681034.1:c.7606G>C	ENSP00000506075.1:p.Gly2536Arg
ENST00000681364.1:n.855G>C
ENST00000343529.9:c.7606G>C	ENSP00000345694.5:p.Gly2536Arg
ENST00000424685.2:c.7606G>C	ENSP00000388446.2:p.Gly2536Arg
ENST00000428762.5:c.7606G>C	ENSP00000392423.1:p.Gly2536Arg
NM_005045.3:c.7606G>C	NP_005036.2:p.Gly2536Arg
NM_173054.2:c.7606G>C	NP_774959.1:p.Gly2536Arg
NM_005045.4:c.7606G>C MANE Select	NP_005036.2:p.Gly2536Arg
NM_173054.3:c.7606G>C	NP_774959.1:p.Gly2536Arg