Canonical Allele Identifier: CA368770955

Gene: RELN

Linked Data

• gnomAD v4: 7-103545184-A-G
• MyVariant Identifiers: chr7:g.103185631A>G (hg19) ; chr7:g.103545184A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545184A>G , CM000669.2:g.103545184A>G	GRCh38
NC_000007.13:g.103185631A>G , CM000669.1:g.103185631A>G	GRCh37
NC_000007.12:g.102972867A>G	NCBI36
NG_011877.1:g.449333T>C
NG_011877.2:g.449333T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6463T>C	ENSP00000388446.3:p.Ser2155Pro
ENST00000428762.6:c.6463T>C MANE Select	ENSP00000392423.1:p.Ser2155Pro
ENST00000679867.1:n.6347T>C
ENST00000679952.1:n.255T>C
ENST00000681034.1:c.6463T>C	ENSP00000506075.1:p.Ser2155Pro
ENST00000681199.1:n.2231T>C
ENST00000343529.9:c.6463T>C	ENSP00000345694.5:p.Ser2155Pro
ENST00000424685.2:c.6463T>C	ENSP00000388446.2:p.Ser2155Pro
ENST00000428762.5:c.6463T>C	ENSP00000392423.1:p.Ser2155Pro
NM_005045.3:c.6463T>C	NP_005036.2:p.Ser2155Pro
NM_173054.2:c.6463T>C	NP_774959.1:p.Ser2155Pro
NM_005045.4:c.6463T>C MANE Select	NP_005036.2:p.Ser2155Pro
NM_173054.3:c.6463T>C	NP_774959.1:p.Ser2155Pro