Canonical Allele Identifier: CA338613877

Gene: SPEN

Linked Data

• MyVariant Identifiers: chr1:g.16257082A>T (hg19) ; chr1:g.15930587A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15930587A>T , CM000663.2:g.15930587A>T	GRCh38
NC_000001.10:g.16257082A>T , CM000663.1:g.16257082A>T	GRCh37
NC_000001.9:g.16129669A>T	NCBI36
NG_050663.1:g.87724A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000438066.2:c.*5198A>T	ENSP00000388021.2:n.*5198A>T
ENST00000375759.8:c.4347A>T MANE Select	ENSP00000364912.3:p.Glu1449Asp
ENST00000375759.7:c.4347A>T	ENSP00000364912.3:p.Glu1449Asp
NM_015001.2:c.4347A>T	NP_055816.2:p.Glu1449Asp
NM_015001.3:c.4347A>T MANE Select	NP_055816.2:p.Glu1449Asp