Canonical Allele Identifier: CA368768971

Gene: RELN

Linked Data

• ClinVar Variation Id: 2951537
• ClinVar RCV Id: RCV003805239
• MyVariant Identifiers: chr7:g.103179525C>T (hg19) ; chr7:g.103539078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103539078C>T , CM000669.2:g.103539078C>T	GRCh38
NC_000007.13:g.103179525C>T , CM000669.1:g.103179525C>T	GRCh37
NC_000007.12:g.102966761C>T	NCBI36
NG_011877.1:g.455439G>A
NG_011877.2:g.455439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.7180G>A	ENSP00000388446.3:p.Ala2394Thr
ENST00000428762.6:c.7180G>A MANE Select	ENSP00000392423.1:p.Ala2394Thr
ENST00000478148.2:n.421G>A
ENST00000679867.1:n.7064G>A
ENST00000679952.1:n.972G>A
ENST00000681034.1:c.7180G>A	ENSP00000506075.1:p.Ala2394Thr
ENST00000681315.1:n.1060G>A
ENST00000681364.1:n.429G>A
ENST00000343529.9:c.7180G>A	ENSP00000345694.5:p.Ala2394Thr
ENST00000424685.2:c.7180G>A	ENSP00000388446.2:p.Ala2394Thr
ENST00000428762.5:c.7180G>A	ENSP00000392423.1:p.Ala2394Thr
ENST00000478148.1:n.411G>A
NM_005045.3:c.7180G>A	NP_005036.2:p.Ala2394Thr
NM_173054.2:c.7180G>A	NP_774959.1:p.Ala2394Thr
XR_001745315.1:n.2425C>T
NM_005045.4:c.7180G>A MANE Select	NP_005036.2:p.Ala2394Thr
NM_173054.3:c.7180G>A	NP_774959.1:p.Ala2394Thr