Canonical Allele Identifier: CA7608488

Linked Data

dbSNP Id: rs752300639

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156867T>A , CM000677.2:g.64156867T>A GRCh38
NC_000015.9:g.64449066T>A , CM000677.1:g.64449066T>A GRCh37
NC_000015.8:g.62236119T>A NCBI36
NG_012979.1:g.11289A>T , LRG_10:g.11289A>T
NG_033071.1:g.10151T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300026.4:c.386A>T (PPIB) MANE Select ENSP00000300026.4:p.Lys129Ile
ENST00000325881.9:c.*2359T>A (SNX22) MANE Select ENSP00000323435.4:n.*2359T>A
ENST00000561048.2:n.3613A>T (PPIB)
ENST00000680158.1:c.*59A>T (PPIB) ENSP00000504873.1:n.*59A>T
ENST00000680343.1:n.340A>T (PPIB)
ENST00000681397.1:c.386A>T (PPIB) ENSP00000506584.1:p.Lys129Ile
ENST00000681658.1:c.281A>T (PPIB) ENSP00000505431.1:p.Lys94Ile
ENST00000300026.3:c.386A>T (PPIB) ENSP00000300026.3:p.Lys129Ile
ENST00000325881.8:c.*2359T>A (SNX22) ENSP00000323435.4:n.*2359T>A
ENST00000557789.5:n.3099T>A (SNX22)
ENST00000558492.1:n.292A>T (PPIB)
ENST00000560997.1:n.2754T>A (SNX22)
NM_000942.4:c.386A>T , LRG_10t1:c.386A>T (PPIB) NP_000933.1:p.Lys129Ile
NM_024798.2:c.*2359T>A (SNX22) NP_079074.2:n.*2359T>A
NR_073534.1:n.3047T>A (SNX22)
XM_017022581.1:c.*2359T>A (SNX22) XP_016878070.1:n.*2359T>A
NM_024798.3:c.*2359T>A (SNX22) MANE Select NP_079074.2:n.*2359T>A
NM_000942.5:c.386A>T (PPIB) MANE Select NP_000933.1:p.Lys129Ile
NR_073534.2:n.3033T>A (SNX22)