Canonical Allele Identifier: CA416380350
Gene: SPEN HGNC NCBI

Linked Data

dbSNP Id: rs1157755725
gnomAD v2: 1-16257079-T-A
gnomAD v4: 1-15930584-T-A
MyVariant Identifiers: chr1:g.16257079T>A (hg19) chr1:g.15930584T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930584T>A , CM000663.2:g.15930584T>A GRCh38
NC_000001.10:g.16257079T>A , CM000663.1:g.16257079T>A GRCh37
NC_000001.9:g.16129666T>A NCBI36
NG_050663.1:g.87721T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5195T>A ENSP00000388021.2:n.*5195T>A
ENST00000375759.8:c.4344T>A MANE Select ENSP00000364912.3:p.Leu1448=
ENST00000375759.7:c.4344T>A ENSP00000364912.3:p.Leu1448=
NM_015001.2:c.4344T>A NP_055816.2:p.Leu1448=
NM_015001.3:c.4344T>A MANE Select NP_055816.2:p.Leu1448=
Search 100 bp 5'
Search 100 bp 3'