Canonical Allele Identifier: CA338613860

Gene: SPEN

Linked Data

• MyVariant Identifiers: chr1:g.16257078T>G (hg19) ; chr1:g.15930583T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15930583T>G , CM000663.2:g.15930583T>G	GRCh38
NC_000001.10:g.16257078T>G , CM000663.1:g.16257078T>G	GRCh37
NC_000001.9:g.16129665T>G	NCBI36
NG_050663.1:g.87720T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000438066.2:c.*5194T>G	ENSP00000388021.2:n.*5194T>G
ENST00000375759.8:c.4343T>G MANE Select	ENSP00000364912.3:p.Leu1448Arg
ENST00000375759.7:c.4343T>G	ENSP00000364912.3:p.Leu1448Arg
NM_015001.2:c.4343T>G	NP_055816.2:p.Leu1448Arg
NM_015001.3:c.4343T>G MANE Select	NP_055816.2:p.Leu1448Arg