Canonical Allele Identifier: CA1142071958
Gene: SPEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930681G= , CM000663.2:g.15930681G= GRCh38
NC_000001.10:g.16257176G= , CM000663.1:g.16257176G= GRCh37
NC_000001.9:g.16129763G= NCBI36
NG_050663.1:g.87818G=

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5292G= ENSP00000388021.2:n.*5292G=
ENST00000704274.1:c.38G=
ENST00000375759.8:c.4441G= MANE Select ENSP00000364912.3:p.Glu1481=
ENST00000375759.7:c.4441G= ENSP00000364912.3:p.Glu1481=
NM_015001.2:c.4441G= NP_055816.2:p.Glu1481=
NM_015001.3:c.4441G= MANE Select NP_055816.2:p.Glu1481=