Canonical Allele Identifier: CA18278216

Gene: SPEN

Linked Data

• dbSNP Id: rs912605511
• MyVariant Identifiers: chr1:g.16257178A>G (hg19) ; chr1:g.15930683A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15930683A>G , CM000663.2:g.15930683A>G	GRCh38
NC_000001.10:g.16257178A>G , CM000663.1:g.16257178A>G	GRCh37
NC_000001.9:g.16129765A>G	NCBI36
NG_050663.1:g.87820A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000438066.2:c.*5294A>G	ENSP00000388021.2:n.*5294A>G
ENST00000704274.1:c.40A>G
ENST00000375759.8:c.4443A>G MANE Select	ENSP00000364912.3:p.Glu1481=
ENST00000375759.7:c.4443A>G	ENSP00000364912.3:p.Glu1481=
NM_015001.2:c.4443A>G	NP_055816.2:p.Glu1481=
NM_015001.3:c.4443A>G MANE Select	NP_055816.2:p.Glu1481=