Canonical Allele Identifier: CA1155574160

Gene: SPEN

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15930584T= , CM000663.2:g.15930584T=	GRCh38
NC_000001.10:g.16257079T= , CM000663.1:g.16257079T=	GRCh37
NC_000001.9:g.16129666T=	NCBI36
NG_050663.1:g.87721T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000438066.2:c.*5195T=	ENSP00000388021.2:n.*5195T=
ENST00000375759.8:c.4344T= MANE Select	ENSP00000364912.3:p.Leu1448=
ENST00000375759.7:c.4344T=	ENSP00000364912.3:p.Leu1448=
NM_015001.2:c.4344T=	NP_055816.2:p.Leu1448=
NM_015001.3:c.4344T= MANE Select	NP_055816.2:p.Leu1448=