Canonical Allele Identifier: CA338613866
Gene: SPEN HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.16257080G>C (hg19) chr1:g.15930585G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930585G>C , CM000663.2:g.15930585G>C GRCh38
NC_000001.10:g.16257080G>C , CM000663.1:g.16257080G>C GRCh37
NC_000001.9:g.16129667G>C NCBI36
NG_050663.1:g.87722G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5196G>C ENSP00000388021.2:n.*5196G>C
ENST00000375759.8:c.4345G>C MANE Select ENSP00000364912.3:p.Glu1449Gln
ENST00000375759.7:c.4345G>C ENSP00000364912.3:p.Glu1449Gln
NM_015001.2:c.4345G>C NP_055816.2:p.Glu1449Gln
NM_015001.3:c.4345G>C MANE Select NP_055816.2:p.Glu1449Gln
Search 100 bp 5'
Search 100 bp 3'