Canonical Allele Identifier: CA338614534
Gene: SPEN HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.16257182G>C (hg19) chr1:g.15930687G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930687G>C , CM000663.2:g.15930687G>C GRCh38
NC_000001.10:g.16257182G>C , CM000663.1:g.16257182G>C GRCh37
NC_000001.9:g.16129769G>C NCBI36
NG_050663.1:g.87824G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5298G>C ENSP00000388021.2:n.*5298G>C
ENST00000704274.1:c.44G>C
ENST00000375759.8:c.4447G>C MANE Select ENSP00000364912.3:p.Val1483Leu
ENST00000375759.7:c.4447G>C ENSP00000364912.3:p.Val1483Leu
NM_015001.2:c.4447G>C NP_055816.2:p.Val1483Leu
NM_015001.3:c.4447G>C MANE Select NP_055816.2:p.Val1483Leu
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