Canonical Allele Identifier: CA8566607
Community Standard Title: NM_021939.4(FKBP10):c.1290C>T (p.Leu430=)
Gene: FKBP10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41820980C>T , CM000679.2:g.41820980C>T GRCh38
NC_000017.10:g.39977232C>T , CM000679.1:g.39977232C>T GRCh37
NC_000017.9:g.37230758C>T NCBI36
NG_015860.1:g.13271C>T , LRG_12:g.13271C>T

Transcript Alleles

HGVS Amino-acid Change
NM_021939.4:c.1290C>T MANE Select NP_068758.3:p.Leu430=
ENST00000321562.9:c.1290C>T MANE Select ENSP00000317232.4:p.Leu430=
NM_021939.3:c.1290C>T , LRG_12t1:c.1290C>T NP_068758.3:p.Leu430=
ENST00000321562.8:c.1290C>T ENSP00000317232.4:p.Leu430=
ENST00000455106.1:c.701C>T
ENST00000464180.1:n.538C>T
ENST00000489591.5:c.*1074C>T ENSP00000466352.1:n.*1074C>T
ENST00000490938.5:n.493C>T
ENST00000706683.1:c.954C>T ENSP00000516497.1:p.Leu318=
XM_011525099.1:c.1347C>T XP_011523401.1:p.Leu449=
XM_011525099.3:c.1347C>T XP_011523401.1:p.Leu449=
XM_011525100.1:c.1074C>T XP_011523402.1:p.Leu358=
XM_011525100.2:c.1074C>T XP_011523402.1:p.Leu358=