Canonical Allele Identifier: CA1155574311
Gene: SPEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930688T= , CM000663.2:g.15930688T= GRCh38
NC_000001.10:g.16257183T= , CM000663.1:g.16257183T= GRCh37
NC_000001.9:g.16129770T= NCBI36
NG_050663.1:g.87825T=

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5299T= ENSP00000388021.2:n.*5299T=
ENST00000704274.1:c.45T=
ENST00000375759.8:c.4448T= MANE Select ENSP00000364912.3:p.Val1483=
ENST00000375759.7:c.4448T= ENSP00000364912.3:p.Val1483=
NM_015001.2:c.4448T= NP_055816.2:p.Val1483=
NM_015001.3:c.4448T= MANE Select NP_055816.2:p.Val1483=