Canonical Allele Identifier: CA416380185
Gene: SPEN HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.16257184T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930689T>G , CM000663.2:g.15930689T>G GRCh38
NC_000001.10:g.16257184T>G , CM000663.1:g.16257184T>G GRCh37
NC_000001.9:g.16129771T>G NCBI36
NG_050663.1:g.87826T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5300T>G ENSP00000388021.2:n.*5300T>G
ENST00000704274.1:c.46T>G
ENST00000375759.8:c.4449T>G MANE Select ENSP00000364912.3:p.Val1483=
ENST00000375759.7:c.4449T>G ENSP00000364912.3:p.Val1483=
NM_015001.2:c.4449T>G NP_055816.2:p.Val1483=
NM_015001.3:c.4449T>G MANE Select NP_055816.2:p.Val1483=
Search 100 bp 5'
Search 100 bp 3'