Canonical Allele Identifier: CA368767675

Gene: RELN

Linked Data

• gnomAD v4: 7-103523396-G-T
• MyVariant Identifiers: chr7:g.103163843G>T (hg19) ; chr7:g.103523396G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103523396G>T , CM000669.2:g.103523396G>T	GRCh38
NC_000007.13:g.103163843G>T , CM000669.1:g.103163843G>T	GRCh37
NC_000007.12:g.102951079G>T	NCBI36
NG_011877.1:g.471121C>A
NG_011877.2:g.471121C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.7485C>A	ENSP00000388446.3:p.Asn2495Lys
ENST00000428762.6:c.7485C>A MANE Select	ENSP00000392423.1:p.Asn2495Lys
ENST00000478148.2:n.726C>A
ENST00000679867.1:n.7369C>A
ENST00000679952.1:n.1413C>A
ENST00000681034.1:c.7485C>A	ENSP00000506075.1:p.Asn2495Lys
ENST00000681364.1:n.734C>A
ENST00000343529.9:c.7485C>A	ENSP00000345694.5:p.Asn2495Lys
ENST00000424685.2:c.7485C>A	ENSP00000388446.2:p.Asn2495Lys
ENST00000428762.5:c.7485C>A	ENSP00000392423.1:p.Asn2495Lys
NM_005045.3:c.7485C>A	NP_005036.2:p.Asn2495Lys
NM_173054.2:c.7485C>A	NP_774959.1:p.Asn2495Lys
NM_005045.4:c.7485C>A MANE Select	NP_005036.2:p.Asn2495Lys
NM_173054.3:c.7485C>A	NP_774959.1:p.Asn2495Lys