Canonical Allele Identifier: CA338613871
Gene: SPEN HGNC NCBI

Linked Data

dbSNP Id: rs1409189895
gnomAD v2: 1-16257081-A-C
gnomAD v4: 1-15930586-A-C
MyVariant Identifiers: chr1:g.16257081A>C (hg19) chr1:g.15930586A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930586A>C , CM000663.2:g.15930586A>C GRCh38
NC_000001.10:g.16257081A>C , CM000663.1:g.16257081A>C GRCh37
NC_000001.9:g.16129668A>C NCBI36
NG_050663.1:g.87723A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5197A>C ENSP00000388021.2:n.*5197A>C
ENST00000375759.8:c.4346A>C MANE Select ENSP00000364912.3:p.Glu1449Ala
ENST00000375759.7:c.4346A>C ENSP00000364912.3:p.Glu1449Ala
NM_015001.2:c.4346A>C NP_055816.2:p.Glu1449Ala
NM_015001.3:c.4346A>C MANE Select NP_055816.2:p.Glu1449Ala
Search 100 bp 5'
Search 100 bp 3'