Canonical Allele Identifier: CA160057241

Gene: FKBP6

Linked Data

• dbSNP Id: rs782491998
• MyVariant Identifiers: chr7:g.72746710T>C (hg19) ; chr7:g.73332707T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73332707T>C , CM000669.2:g.73332707T>C	GRCh38
NC_000007.13:g.72746710T>C , CM000669.1:g.72746710T>C	GRCh37
NC_000007.12:g.72384646T>C	NCBI36
NG_023242.2:g.9552T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252037.5:c.588+931T>C MANE Select	ENSP00000252037.4:n.588+931T>C
ENST00000648538.1:c.573+931T>C	ENSP00000497448.1:n.573+931T>C
ENST00000252037.4:c.588+931T>C	ENSP00000252037.4:n.588+931T>C
ENST00000413573.6:c.498+931T>C	ENSP00000394952.2:n.498+931T>C
ENST00000429879.5:c.573+946T>C	ENSP00000403908.1:n.573+946T>C
ENST00000431982.6:c.573+931T>C	ENSP00000416277.2:n.573+931T>C
ENST00000442793.5:c.453+2355T>C	ENSP00000402360.1:n.453+2355T>C
ENST00000445032.5:c.*667+931T>C	ENSP00000415891.1:n.*667+931T>C
NM_001135211.2:c.573+931T>C	NP_001128683.1:n.573+931T>C
NM_001281304.1:c.498+931T>C	NP_001268233.1:n.498+931T>C
NM_003602.4:c.588+931T>C	NP_003593.3:n.588+931T>C
XM_005250643.3:c.468+2355T>C	XP_005250700.1:n.468+2355T>C
XM_006716152.2:c.573+946T>C	XP_006716215.1:n.573+946T>C
XM_006716153.1:c.453+2355T>C	XP_006716216.1:n.453+2355T>C
XM_011516644.1:c.588+931T>C	XP_011514946.1:n.588+931T>C
NM_001362789.1:c.453+2355T>C	NP_001349718.1:n.453+2355T>C
XM_017012741.1:c.558+946T>C	XP_016868230.1:n.558+946T>C
XM_017012742.1:c.573+931T>C	XP_016868231.1:n.573+931T>C
NM_003602.5:c.588+931T>C MANE Select	NP_003593.3:n.588+931T>C
NM_001135211.3:c.573+931T>C	NP_001128683.1:n.573+931T>C
NM_001281304.2:c.498+931T>C	NP_001268233.1:n.498+931T>C
NM_001362789.2:c.453+2355T>C	NP_001349718.1:n.453+2355T>C