Canonical Allele Identifier: CA338614568
Gene: SPEN HGNC NCBI

Linked Data

dbSNP Id: rs1449167158
gnomAD v2: 1-16257183-T-C
gnomAD v3: 1-15930688-T-C
gnomAD v4: 1-15930688-T-C
MyVariant Identifiers: chr1:g.16257183T>C (hg19) chr1:g.15930688T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5299T>C ENSP00000388021.2:n.*5299T>C
ENST00000704274.1:c.45T>C
ENST00000375759.8:c.4448T>C MANE Select ENSP00000364912.3:p.Val1483Ala
ENST00000375759.7:c.4448T>C ENSP00000364912.3:p.Val1483Ala
NM_015001.2:c.4448T>C NP_055816.2:p.Val1483Ala
NM_015001.3:c.4448T>C MANE Select NP_055816.2:p.Val1483Ala
Search 100 bp 5'
Search 100 bp 3'