Canonical Allele Identifier: CA338613864
Gene: SPEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1301995
ClinVar RCV Id: RCV001733859
dbSNP Id: rs2148739431
MyVariant Identifiers: chr1:g.16257080G>T (hg19) chr1:g.15930585G>T (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5196G>T ENSP00000388021.2:n.*5196G>T
ENST00000375759.8:c.4345G>T MANE Select ENSP00000364912.3:p.Glu1449Ter
ENST00000375759.7:c.4345G>T ENSP00000364912.3:p.Glu1449Ter
NM_015001.2:c.4345G>T NP_055816.2:p.Glu1449Ter
NM_015001.3:c.4345G>T MANE Select NP_055816.2:p.Glu1449Ter
Search 100 bp 5'
Search 100 bp 3'