Canonical Allele Identifier: CA338614524

Gene: SPEN

Linked Data

• gnomAD v4: 1-15930686-G-T
• MyVariant Identifiers: chr1:g.16257181G>T (hg19) ; chr1:g.15930686G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15930686G>T , CM000663.2:g.15930686G>T	GRCh38
NC_000001.10:g.16257181G>T , CM000663.1:g.16257181G>T	GRCh37
NC_000001.9:g.16129768G>T	NCBI36
NG_050663.1:g.87823G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000438066.2:c.*5297G>T	ENSP00000388021.2:n.*5297G>T
ENST00000704274.1:c.43G>T
ENST00000375759.8:c.4446G>T MANE Select	ENSP00000364912.3:p.Lys1482Asn
ENST00000375759.7:c.4446G>T	ENSP00000364912.3:p.Lys1482Asn
NM_015001.2:c.4446G>T	NP_055816.2:p.Lys1482Asn
NM_015001.3:c.4446G>T MANE Select	NP_055816.2:p.Lys1482Asn