Canonical Allele Identifier: CA4420872
Gene: RELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103540285G>A , CM000669.2:g.103540285G>A GRCh38
NC_000007.13:g.103180732G>A , CM000669.1:g.103180732G>A GRCh37
NC_000007.12:g.102967968G>A NCBI36
NG_011877.1:g.454232C>T
NG_011877.2:g.454232C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.6842C>T ENSP00000388446.3:p.Pro2281Leu
ENST00000428762.6:c.6842C>T MANE Select ENSP00000392423.1:p.Pro2281Leu
ENST00000679867.1:n.6726C>T
ENST00000679952.1:n.634C>T
ENST00000681034.1:c.6842C>T ENSP00000506075.1:p.Pro2281Leu
ENST00000681315.1:n.722C>T
ENST00000343529.9:c.6842C>T ENSP00000345694.5:p.Pro2281Leu
ENST00000424685.2:c.6842C>T ENSP00000388446.2:p.Pro2281Leu
ENST00000428762.5:c.6842C>T ENSP00000392423.1:p.Pro2281Leu
NM_005045.3:c.6842C>T NP_005036.2:p.Pro2281Leu
NM_173054.2:c.6842C>T NP_774959.1:p.Pro2281Leu
NM_005045.4:c.6842C>T MANE Select NP_005036.2:p.Pro2281Leu
NM_173054.3:c.6842C>T NP_774959.1:p.Pro2281Leu