Canonical Allele Identifier: CA338614593
Gene: SPEN HGNC NCBI

Linked Data

gnomAD v4: 1-15930693-T-A
MyVariant Identifiers: chr1:g.16257188T>A (hg19) chr1:g.15930693T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930693T>A , CM000663.2:g.15930693T>A GRCh38
NC_000001.10:g.16257188T>A , CM000663.1:g.16257188T>A GRCh37
NC_000001.9:g.16129775T>A NCBI36
NG_050663.1:g.87830T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5304T>A ENSP00000388021.2:n.*5304T>A
ENST00000704274.1:c.50T>A
ENST00000375759.8:c.4453T>A MANE Select ENSP00000364912.3:p.Ser1485Thr
ENST00000375759.7:c.4453T>A ENSP00000364912.3:p.Ser1485Thr
NM_015001.2:c.4453T>A NP_055816.2:p.Ser1485Thr
NM_015001.3:c.4453T>A MANE Select NP_055816.2:p.Ser1485Thr
Search 100 bp 5'
Search 100 bp 3'