Canonical Allele Identifier: CA368770971

Gene: RELN

Linked Data

• ClinVar Variation Id: 1025001
• ClinVar RCV Id: RCV001325257
• dbSNP Id: rs1830265054
• MyVariant Identifiers: chr7:g.103185640G>A (hg19) ; chr7:g.103545193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545193G>A , CM000669.2:g.103545193G>A	GRCh38
NC_000007.13:g.103185640G>A , CM000669.1:g.103185640G>A	GRCh37
NC_000007.12:g.102972876G>A	NCBI36
NG_011877.1:g.449324C>T
NG_011877.2:g.449324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6454C>T	ENSP00000388446.3:p.Pro2152Ser
ENST00000428762.6:c.6454C>T MANE Select	ENSP00000392423.1:p.Pro2152Ser
ENST00000679867.1:n.6338C>T
ENST00000679952.1:n.246C>T
ENST00000681034.1:c.6454C>T	ENSP00000506075.1:p.Pro2152Ser
ENST00000681199.1:n.2222C>T
ENST00000343529.9:c.6454C>T	ENSP00000345694.5:p.Pro2152Ser
ENST00000424685.2:c.6454C>T	ENSP00000388446.2:p.Pro2152Ser
ENST00000428762.5:c.6454C>T	ENSP00000392423.1:p.Pro2152Ser
NM_005045.3:c.6454C>T	NP_005036.2:p.Pro2152Ser
NM_173054.2:c.6454C>T	NP_774959.1:p.Pro2152Ser
NM_005045.4:c.6454C>T MANE Select	NP_005036.2:p.Pro2152Ser
NM_173054.3:c.6454C>T	NP_774959.1:p.Pro2152Ser