Canonical Allele Identifier: CA416380359
Gene: SPEN HGNC NCBI

Linked Data

dbSNP Id: rs1474570933
gnomAD v3: 1-15930587-A-G
gnomAD v4: 1-15930587-A-G
MyVariant Identifiers: chr1:g.16257082A>G (hg19) chr1:g.15930587A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930587A>G , CM000663.2:g.15930587A>G GRCh38
NC_000001.10:g.16257082A>G , CM000663.1:g.16257082A>G GRCh37
NC_000001.9:g.16129669A>G NCBI36
NG_050663.1:g.87724A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5198A>G ENSP00000388021.2:n.*5198A>G
ENST00000375759.8:c.4347A>G MANE Select ENSP00000364912.3:p.Glu1449=
ENST00000375759.7:c.4347A>G ENSP00000364912.3:p.Glu1449=
NM_015001.2:c.4347A>G NP_055816.2:p.Glu1449=
NM_015001.3:c.4347A>G MANE Select NP_055816.2:p.Glu1449=
Search 100 bp 5'
Search 100 bp 3'