Canonical Allele Identifier: CA338614602
Gene: SPEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1800857
ClinVar RCV Id: RCV002462454
MyVariant Identifiers: chr1:g.16257189C>G (hg19) chr1:g.15930694C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930694C>G , CM000663.2:g.15930694C>G GRCh38
NC_000001.10:g.16257189C>G , CM000663.1:g.16257189C>G GRCh37
NC_000001.9:g.16129776C>G NCBI36
NG_050663.1:g.87831C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5305C>G ENSP00000388021.2:n.*5305C>G
ENST00000704274.1:c.51C>G
ENST00000375759.8:c.4454C>G MANE Select ENSP00000364912.3:p.Ser1485Cys
ENST00000375759.7:c.4454C>G ENSP00000364912.3:p.Ser1485Cys
NM_015001.2:c.4454C>G NP_055816.2:p.Ser1485Cys
NM_015001.3:c.4454C>G MANE Select NP_055816.2:p.Ser1485Cys
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