Canonical Allele Identifier: CA338613893
Gene: SPEN HGNC NCBI

Linked Data

gnomAD v4: 1-15930590-A-C
MyVariant Identifiers: chr1:g.16257085A>C (hg19) chr1:g.15930590A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930590A>C , CM000663.2:g.15930590A>C GRCh38
NC_000001.10:g.16257085A>C , CM000663.1:g.16257085A>C GRCh37
NC_000001.9:g.16129672A>C NCBI36
NG_050663.1:g.87727A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5201A>C ENSP00000388021.2:n.*5201A>C
ENST00000375759.8:c.4350A>C MANE Select ENSP00000364912.3:p.Arg1450Ser
ENST00000375759.7:c.4350A>C ENSP00000364912.3:p.Arg1450Ser
NM_015001.2:c.4350A>C NP_055816.2:p.Arg1450Ser
NM_015001.3:c.4350A>C MANE Select NP_055816.2:p.Arg1450Ser
Search 100 bp 5'
Search 100 bp 3'