Canonical Allele Identifier: CA1155574302
Gene: SPEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930683A= , CM000663.2:g.15930683A= GRCh38
NC_000001.10:g.16257178A= , CM000663.1:g.16257178A= GRCh37
NC_000001.9:g.16129765A= NCBI36
NG_050663.1:g.87820A=

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5294A= ENSP00000388021.2:n.*5294A=
ENST00000704274.1:c.40A=
ENST00000375759.8:c.4443A= MANE Select ENSP00000364912.3:p.Glu1481=
ENST00000375759.7:c.4443A= ENSP00000364912.3:p.Glu1481=
NM_015001.2:c.4443A= NP_055816.2:p.Glu1481=
NM_015001.3:c.4443A= MANE Select NP_055816.2:p.Glu1481=