Canonical Allele Identifier: CA338613884

Gene: SPEN

Linked Data

• MyVariant Identifiers: chr1:g.16257084G>A (hg19) ; chr1:g.15930589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15930589G>A , CM000663.2:g.15930589G>A	GRCh38
NC_000001.10:g.16257084G>A , CM000663.1:g.16257084G>A	GRCh37
NC_000001.9:g.16129671G>A	NCBI36
NG_050663.1:g.87726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438066.2:c.*5200G>A	ENSP00000388021.2:n.*5200G>A
ENST00000375759.8:c.4349G>A MANE Select	ENSP00000364912.3:p.Arg1450Lys
ENST00000375759.7:c.4349G>A	ENSP00000364912.3:p.Arg1450Lys
NM_015001.2:c.4349G>A	NP_055816.2:p.Arg1450Lys
NM_015001.3:c.4349G>A MANE Select	NP_055816.2:p.Arg1450Lys