Canonical Allele Identifier: CA338614570
Gene: SPEN HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.16257183T>G (hg19) chr1:g.15930688T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930688T>G , CM000663.2:g.15930688T>G GRCh38
NC_000001.10:g.16257183T>G , CM000663.1:g.16257183T>G GRCh37
NC_000001.9:g.16129770T>G NCBI36
NG_050663.1:g.87825T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5299T>G ENSP00000388021.2:n.*5299T>G
ENST00000704274.1:c.45T>G
ENST00000375759.8:c.4448T>G MANE Select ENSP00000364912.3:p.Val1483Gly
ENST00000375759.7:c.4448T>G ENSP00000364912.3:p.Val1483Gly
NM_015001.2:c.4448T>G NP_055816.2:p.Val1483Gly
NM_015001.3:c.4448T>G MANE Select NP_055816.2:p.Val1483Gly
Search 100 bp 5'
Search 100 bp 3'