Canonical Allele Identifier: CA457030943

Gene: RELN

Linked Data

• COSMIC: COSM5503292
• MyVariant Identifiers: chr7:g.103185671G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545224G>A , CM000669.2:g.103545224G>A	GRCh38
NC_000007.13:g.103185671G>A , CM000669.1:g.103185671G>A	GRCh37
NC_000007.12:g.102972907G>A	NCBI36
NG_011877.1:g.449293C>T
NG_011877.2:g.449293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6423C>T	ENSP00000388446.3:p.Ser2141=
ENST00000428762.6:c.6423C>T MANE Select	ENSP00000392423.1:p.Ser2141=
ENST00000679867.1:n.6307C>T
ENST00000679952.1:n.215C>T
ENST00000681034.1:c.6423C>T	ENSP00000506075.1:p.Ser2141=
ENST00000681199.1:n.2191C>T
ENST00000343529.9:c.6423C>T	ENSP00000345694.5:p.Ser2141=
ENST00000424685.2:c.6423C>T	ENSP00000388446.2:p.Ser2141=
ENST00000428762.5:c.6423C>T	ENSP00000392423.1:p.Ser2141=
NM_005045.3:c.6423C>T	NP_005036.2:p.Ser2141=
NM_173054.2:c.6423C>T	NP_774959.1:p.Ser2141=
NM_005045.4:c.6423C>T MANE Select	NP_005036.2:p.Ser2141=
NM_173054.3:c.6423C>T	NP_774959.1:p.Ser2141=