Canonical Allele Identifier: CA130860

Gene: FKBP10

Linked Data

• ClinVar Variation Id: 41473
• ClinVar RCV Id: RCV000034360 ; RCV003137556 ; RCV003556108 ; RCV004525862 ; RCV004541065
• dbSNP Id: rs397514674
• ExAC: 17:39973401 G / A
• gnomAD v2: 17-39973401-G-A
• gnomAD v3: 17-41817149-G-A
• gnomAD v4: 17-41817149-G-A
• COSMIC: COSM5496751
• MyVariant Identifiers: chr17:g.39973401G>A (hg19) ; chr17:g.41817149G>A (hg38)
• PubMed: PMID:9129737 ; PMID:22949511

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41817149G>A , CM000679.2:g.41817149G>A	GRCh38
NC_000017.10:g.39973401G>A , CM000679.1:g.39973401G>A	GRCh37
NC_000017.9:g.37226927G>A	NCBI36
NG_015860.1:g.9440G>A , LRG_12:g.9440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706683.1:c.337G>A	ENSP00000516497.1:p.Glu113Lys
ENST00000321562.9:c.337G>A MANE Select	ENSP00000317232.4:p.Glu113Lys
ENST00000321562.8:c.337G>A	ENSP00000317232.4:p.Glu113Lys
ENST00000429461.5:c.157G>A	ENSP00000408232.1:p.Glu53Lys
ENST00000489591.5:c.246-940G>A	ENSP00000466352.1:n.246-940G>A
ENST00000585664.5:c.157G>A	ENSP00000468703.1:p.Glu53Lys
ENST00000585922.5:c.337G>A	ENSP00000466097.1:p.Glu113Lys
NM_021939.3:c.337G>A , LRG_12t1:c.337G>A	NP_068758.3:p.Glu113Lys
XM_011525099.1:c.337G>A	XP_011523401.1:p.Glu113Lys
XM_011525100.1:c.119-940G>A	XP_011523402.1:n.119-940G>A
XM_011525099.3:c.337G>A	XP_011523401.1:p.Glu113Lys
XM_011525100.2:c.119-940G>A	XP_011523402.1:n.119-940G>A
NM_021939.4:c.337G>A MANE Select	NP_068758.3:p.Glu113Lys