Canonical Allele Identifier: CA368770885

Gene: RELN

Linked Data

• dbSNP Id: rs2117139648
• gnomAD v4: 7-103545153-T-C
• MyVariant Identifiers: chr7:g.103185600T>C (hg19) ; chr7:g.103545153T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545153T>C , CM000669.2:g.103545153T>C	GRCh38
NC_000007.13:g.103185600T>C , CM000669.1:g.103185600T>C	GRCh37
NC_000007.12:g.102972836T>C	NCBI36
NG_011877.1:g.449364A>G
NG_011877.2:g.449364A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6494A>G	ENSP00000388446.3:p.Asn2165Ser
ENST00000428762.6:c.6494A>G MANE Select	ENSP00000392423.1:p.Asn2165Ser
ENST00000679867.1:n.6378A>G
ENST00000679952.1:n.286A>G
ENST00000681034.1:c.6494A>G	ENSP00000506075.1:p.Asn2165Ser
ENST00000681199.1:n.2262A>G
ENST00000343529.9:c.6494A>G	ENSP00000345694.5:p.Asn2165Ser
ENST00000424685.2:c.6494A>G	ENSP00000388446.2:p.Asn2165Ser
ENST00000428762.5:c.6494A>G	ENSP00000392423.1:p.Asn2165Ser
NM_005045.3:c.6494A>G	NP_005036.2:p.Asn2165Ser
NM_173054.2:c.6494A>G	NP_774959.1:p.Asn2165Ser
NM_005045.4:c.6494A>G MANE Select	NP_005036.2:p.Asn2165Ser
NM_173054.3:c.6494A>G	NP_774959.1:p.Asn2165Ser