Canonical Allele Identifier: CA338613797

Gene: SPEN

Linked Data

• MyVariant Identifiers: chr1:g.16257059C>G (hg19) ; chr1:g.15930564C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15930564C>G , CM000663.2:g.15930564C>G	GRCh38
NC_000001.10:g.16257059C>G , CM000663.1:g.16257059C>G	GRCh37
NC_000001.9:g.16129646C>G	NCBI36
NG_050663.1:g.87701C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438066.2:c.*5175C>G	ENSP00000388021.2:n.*5175C>G
ENST00000375759.8:c.4324C>G MANE Select	ENSP00000364912.3:p.Pro1442Ala
ENST00000375759.7:c.4324C>G	ENSP00000364912.3:p.Pro1442Ala
NM_015001.2:c.4324C>G	NP_055816.2:p.Pro1442Ala
NM_015001.3:c.4324C>G MANE Select	NP_055816.2:p.Pro1442Ala