Canonical Allele Identifier: CA368765265

Gene: RELN

Linked Data

• ClinVar Variation Id: 585141
• ClinVar RCV Id: RCV000709956
• dbSNP Id: rs1562940963
• MyVariant Identifiers: chr7:g.103293001T>C (hg19) ; chr7:g.103652554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103652554T>C , CM000669.2:g.103652554T>C	GRCh38
NC_000007.13:g.103293001T>C , CM000669.1:g.103293001T>C	GRCh37
NC_000007.12:g.103080237T>C	NCBI36
NG_011877.1:g.341963A>G
NG_011877.2:g.341963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.1760A>G	ENSP00000388446.3:p.Asn587Ser
ENST00000428762.6:c.1760A>G MANE Select	ENSP00000392423.1:p.Asn587Ser
ENST00000473457.2:n.2024A>G
ENST00000679867.1:n.1644A>G
ENST00000680712.1:n.1477A>G
ENST00000681034.1:c.1760A>G	ENSP00000506075.1:p.Asn587Ser
ENST00000681931.1:n.1644A>G
ENST00000343529.9:c.1760A>G	ENSP00000345694.5:p.Asn587Ser
ENST00000424685.2:c.1760A>G	ENSP00000388446.2:p.Asn587Ser
ENST00000428762.5:c.1760A>G	ENSP00000392423.1:p.Asn587Ser
NM_005045.3:c.1760A>G	NP_005036.2:p.Asn587Ser
NM_173054.2:c.1760A>G	NP_774959.1:p.Asn587Ser
NM_005045.4:c.1760A>G MANE Select	NP_005036.2:p.Asn587Ser
NM_173054.3:c.1760A>G	NP_774959.1:p.Asn587Ser