Canonical Allele Identifier: CA8566439

Gene: FKBP10

Linked Data

• dbSNP Id: rs782410336
• ExAC: 17:39975820 A / T
• gnomAD v2: 17-39975820-A-T
• gnomAD v4: 17-41819568-A-T
• MyVariant Identifiers: chr17:g.39975820A>T (hg19) ; chr17:g.41819568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41819568A>T , CM000679.2:g.41819568A>T	GRCh38
NC_000017.10:g.39975820A>T , CM000679.1:g.39975820A>T	GRCh37
NC_000017.9:g.37229346A>T	NCBI36
NG_015860.1:g.11859A>T , LRG_12:g.11859A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706683.1:c.728-701A>T	ENSP00000516497.1:n.728-701A>T
ENST00000321562.9:c.956A>T MANE Select	ENSP00000317232.4:p.Gln319Leu
ENST00000321562.8:c.956A>T	ENSP00000317232.4:p.Gln319Leu
ENST00000455106.1:c.184A>T
ENST00000487489.1:n.569A>T
ENST00000489591.5:c.*366A>T	ENSP00000466352.1:n.*366A>T
NM_021939.3:c.956A>T , LRG_12t1:c.956A>T	NP_068758.3:p.Gln319Leu
XM_011525099.1:c.956A>T	XP_011523401.1:p.Gln319Leu
XM_011525100.1:c.683A>T	XP_011523402.1:p.Gln228Leu
XM_011525099.3:c.956A>T	XP_011523401.1:p.Gln319Leu
XM_011525100.2:c.683A>T	XP_011523402.1:p.Gln228Leu
NM_021939.4:c.956A>T MANE Select	NP_068758.3:p.Gln319Leu