Canonical Allele Identifier: CA576945596

Gene: RELN

Linked Data

• dbSNP Id: rs1313288168
• gnomAD v2: 7-103212756-C-T
• gnomAD v4: 7-103572309-C-T
• MyVariant Identifiers: chr7:g.103212756C>T (hg19) ; chr7:g.103572309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103572309C>T , CM000669.2:g.103572309C>T	GRCh38
NC_000007.13:g.103212756C>T , CM000669.1:g.103212756C>T	GRCh37
NC_000007.12:g.102999992C>T	NCBI36
NG_011877.1:g.422208G>A
NG_011877.2:g.422208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.4512-49G>A	ENSP00000388446.3:n.4512-49G>A
ENST00000428762.6:c.4512-49G>A MANE Select	ENSP00000392423.1:n.4512-49G>A
ENST00000679867.1:n.4396-49G>A
ENST00000680706.1:n.2215-49G>A
ENST00000681034.1:c.4512-49G>A	ENSP00000506075.1:n.4512-49G>A
ENST00000343529.9:c.4512-49G>A	ENSP00000345694.5:n.4512-49G>A
ENST00000424685.2:c.4512-49G>A	ENSP00000388446.2:n.4512-49G>A
ENST00000428762.5:c.4512-49G>A	ENSP00000392423.1:n.4512-49G>A
NM_005045.3:c.4512-49G>A	NP_005036.2:n.4512-49G>A
NM_173054.2:c.4512-49G>A	NP_774959.1:n.4512-49G>A
NM_005045.4:c.4512-49G>A MANE Select	NP_005036.2:n.4512-49G>A
NM_173054.3:c.4512-49G>A	NP_774959.1:n.4512-49G>A