Canonical Allele Identifier: CA416380190

Gene: SPEN

Linked Data

• MyVariant Identifiers: chr1:g.16257187C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15930692C>T , CM000663.2:g.15930692C>T	GRCh38
NC_000001.10:g.16257187C>T , CM000663.1:g.16257187C>T	GRCh37
NC_000001.9:g.16129774C>T	NCBI36
NG_050663.1:g.87829C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000438066.2:c.*5303C>T	ENSP00000388021.2:n.*5303C>T
ENST00000704274.1:c.49C>T
ENST00000375759.8:c.4452C>T MANE Select	ENSP00000364912.3:p.Asp1484=
ENST00000375759.7:c.4452C>T	ENSP00000364912.3:p.Asp1484=
NM_015001.2:c.4452C>T	NP_055816.2:p.Asp1484=
NM_015001.3:c.4452C>T MANE Select	NP_055816.2:p.Asp1484=