Canonical Allele Identifier: CA338613898

Gene: SPEN

Linked Data

• MyVariant Identifiers: chr1:g.16257086G>T (hg19) ; chr1:g.15930591G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15930591G>T , CM000663.2:g.15930591G>T	GRCh38
NC_000001.10:g.16257086G>T , CM000663.1:g.16257086G>T	GRCh37
NC_000001.9:g.16129673G>T	NCBI36
NG_050663.1:g.87728G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000438066.2:c.*5202G>T	ENSP00000388021.2:n.*5202G>T
ENST00000375759.8:c.4351G>T MANE Select	ENSP00000364912.3:p.Ala1451Ser
ENST00000375759.7:c.4351G>T	ENSP00000364912.3:p.Ala1451Ser
NM_015001.2:c.4351G>T	NP_055816.2:p.Ala1451Ser
NM_015001.3:c.4351G>T MANE Select	NP_055816.2:p.Ala1451Ser