Canonical Allele Identifier: CA338614405

Gene: SPEN

Linked Data

• MyVariant Identifiers: chr1:g.16257166C>A (hg19) ; chr1:g.15930671C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15930671C>A , CM000663.2:g.15930671C>A	GRCh38
NC_000001.10:g.16257166C>A , CM000663.1:g.16257166C>A	GRCh37
NC_000001.9:g.16129753C>A	NCBI36
NG_050663.1:g.87808C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438066.2:c.*5282C>A	ENSP00000388021.2:n.*5282C>A
ENST00000704274.1:c.28C>A
ENST00000375759.8:c.4431C>A MANE Select	ENSP00000364912.3:p.Asn1477Lys
ENST00000375759.7:c.4431C>A	ENSP00000364912.3:p.Asn1477Lys
NM_015001.2:c.4431C>A	NP_055816.2:p.Asn1477Lys
NM_015001.3:c.4431C>A MANE Select	NP_055816.2:p.Asn1477Lys