Canonical Allele Identifier: CA412852611

Gene: EBP

Linked Data

• MyVariant Identifiers: chrX:g.48385640C>A (hg19) ; chrX:g.48527252C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527252C>A , CM000685.2:g.48527252C>A	GRCh38
NC_000023.10:g.48385640C>A , CM000685.1:g.48385640C>A	GRCh37
NC_000023.9:g.48270584C>A	NCBI36
NG_007452.1:g.10477C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.436C>A MANE Select	ENSP00000417052.1:p.Leu146Ile
ENST00000651615.1:c.436C>A	ENSP00000498524.1:p.Leu146Ile
ENST00000276096.10:n.394C>A
ENST00000414061.1:c.436C>A
ENST00000446158.5:c.436C>A	ENSP00000390031.1:p.Leu146Ile
ENST00000466461.1:n.275C>A
ENST00000495186.5:c.436C>A	ENSP00000417052.1:p.Leu146Ile
ENST00000498425.1:n.557C>A
NM_006579.2:c.436C>A	NP_006570.1:p.Leu146Ile
NM_006579.3:c.436C>A MANE Select	NP_006570.1:p.Leu146Ile