Canonical Allele Identifier: CA368771104

Gene: RELN

Linked Data

• ClinVar Variation Id: 1000064
• ClinVar RCV Id: RCV001296148
• dbSNP Id: rs1349996046
• gnomAD v2: 7-103185696-T-G
• gnomAD v3: 7-103545249-T-G
• gnomAD v4: 7-103545249-T-G
• MyVariant Identifiers: chr7:g.103185696T>G (hg19) ; chr7:g.103545249T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545249T>G , CM000669.2:g.103545249T>G	GRCh38
NC_000007.13:g.103185696T>G , CM000669.1:g.103185696T>G	GRCh37
NC_000007.12:g.102972932T>G	NCBI36
NG_011877.1:g.449268A>C
NG_011877.2:g.449268A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6398A>C	ENSP00000388446.3:p.Glu2133Ala
ENST00000428762.6:c.6398A>C MANE Select	ENSP00000392423.1:p.Glu2133Ala
ENST00000679867.1:n.6282A>C
ENST00000679952.1:n.190A>C
ENST00000681034.1:c.6398A>C	ENSP00000506075.1:p.Glu2133Ala
ENST00000681199.1:n.2166A>C
ENST00000343529.9:c.6398A>C	ENSP00000345694.5:p.Glu2133Ala
ENST00000424685.2:c.6398A>C	ENSP00000388446.2:p.Glu2133Ala
ENST00000428762.5:c.6398A>C	ENSP00000392423.1:p.Glu2133Ala
NM_005045.3:c.6398A>C	NP_005036.2:p.Glu2133Ala
NM_173054.2:c.6398A>C	NP_774959.1:p.Glu2133Ala
NM_005045.4:c.6398A>C MANE Select	NP_005036.2:p.Glu2133Ala
NM_173054.3:c.6398A>C	NP_774959.1:p.Glu2133Ala