Canonical Allele Identifier: CA416380178
Gene: SPEN HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.16257181G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930686G>A , CM000663.2:g.15930686G>A GRCh38
NC_000001.10:g.16257181G>A , CM000663.1:g.16257181G>A GRCh37
NC_000001.9:g.16129768G>A NCBI36
NG_050663.1:g.87823G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5297G>A ENSP00000388021.2:n.*5297G>A
ENST00000704274.1:c.43G>A
ENST00000375759.8:c.4446G>A MANE Select ENSP00000364912.3:p.Lys1482=
ENST00000375759.7:c.4446G>A ENSP00000364912.3:p.Lys1482=
NM_015001.2:c.4446G>A NP_055816.2:p.Lys1482=
NM_015001.3:c.4446G>A MANE Select NP_055816.2:p.Lys1482=
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