Canonical Allele Identifier: CA338614497

Gene: SPEN

Linked Data

• MyVariant Identifiers: chr1:g.16257180A>T (hg19) ; chr1:g.15930685A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15930685A>T , CM000663.2:g.15930685A>T	GRCh38
NC_000001.10:g.16257180A>T , CM000663.1:g.16257180A>T	GRCh37
NC_000001.9:g.16129767A>T	NCBI36
NG_050663.1:g.87822A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000438066.2:c.*5296A>T	ENSP00000388021.2:n.*5296A>T
ENST00000704274.1:c.42A>T
ENST00000375759.8:c.4445A>T MANE Select	ENSP00000364912.3:p.Lys1482Met
ENST00000375759.7:c.4445A>T	ENSP00000364912.3:p.Lys1482Met
NM_015001.2:c.4445A>T	NP_055816.2:p.Lys1482Met
NM_015001.3:c.4445A>T MANE Select	NP_055816.2:p.Lys1482Met