Canonical Allele Identifier: CA619578
Gene: SPEN HGNC NCBI

Linked Data

dbSNP Id: rs773449933
ExAC: 1:16257185 G / A
gnomAD v2: 1-16257185-G-A
gnomAD v3: 1-15930690-G-A
gnomAD v4: 1-15930690-G-A
MyVariant Identifiers: chr1:g.16257185G>A (hg19) chr1:g.15930690G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930690G>A , CM000663.2:g.15930690G>A GRCh38
NC_000001.10:g.16257185G>A , CM000663.1:g.16257185G>A GRCh37
NC_000001.9:g.16129772G>A NCBI36
NG_050663.1:g.87827G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5301G>A ENSP00000388021.2:n.*5301G>A
ENST00000704274.1:c.47G>A
ENST00000375759.8:c.4450G>A MANE Select ENSP00000364912.3:p.Asp1484Asn
ENST00000375759.7:c.4450G>A ENSP00000364912.3:p.Asp1484Asn
NM_015001.2:c.4450G>A NP_055816.2:p.Asp1484Asn
NM_015001.3:c.4450G>A MANE Select NP_055816.2:p.Asp1484Asn
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