Canonical Allele Identifier: CA1155574306
Gene: SPEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930687G= , CM000663.2:g.15930687G= GRCh38
NC_000001.10:g.16257182G= , CM000663.1:g.16257182G= GRCh37
NC_000001.9:g.16129769G= NCBI36
NG_050663.1:g.87824G=

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5298G= ENSP00000388021.2:n.*5298G=
ENST00000704274.1:c.44G=
ENST00000375759.8:c.4447G= MANE Select ENSP00000364912.3:p.Val1483=
ENST00000375759.7:c.4447G= ENSP00000364912.3:p.Val1483=
NM_015001.2:c.4447G= NP_055816.2:p.Val1483=
NM_015001.3:c.4447G= MANE Select NP_055816.2:p.Val1483=