Canonical Allele Identifier: CA217921471
Community Standard Title: NM_024514.5(CYP2R1):c.995T>C (p.Ile332Thr)
Gene: CYP2R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14880141A>G , CM000673.2:g.14880141A>G GRCh38
NC_000011.9:g.14901687A>G , CM000673.1:g.14901687A>G GRCh37
NC_000011.8:g.14858263A>G NCBI36
NG_007936.1:g.17065T>C

Transcript Alleles

HGVS Amino-acid Change
NM_024514.5:c.995T>C MANE Select NP_078790.2:p.Ile332Thr
ENST00000334636.10:c.995T>C MANE Select ENSP00000334592.5:p.Ile332Thr
NM_001377214.1:c.650T>C NP_001364143.1:p.Ile217Thr
NM_001377215.1:c.650T>C NP_001364144.1:p.Ile217Thr
NM_001377216.1:c.650T>C NP_001364145.1:p.Ile217Thr
NM_001377217.1:c.833T>C NP_001364146.1:p.Ile278Thr
NM_001377227.1:c.650T>C NP_001364156.1:p.Ile217Thr
NM_001400558.1:c.650T>C NP_001387487.1:p.Ile217Thr
NM_001400559.1:c.650T>C NP_001387488.1:p.Ile217Thr
NM_001400560.1:c.650T>C NP_001387489.1:p.Ile217Thr
NM_001400561.1:c.650T>C NP_001387490.1:p.Ile217Thr
NM_001400562.1:c.296T>C NP_001387491.1:p.Ile99Thr
NM_001400563.1:c.296T>C NP_001387492.1:p.Ile99Thr
NM_001400564.1:c.296T>C NP_001387493.1:p.Ile99Thr
NM_001400565.1:c.296T>C NP_001387494.1:p.Ile99Thr
NM_001400566.1:c.23-698T>C NP_001387495.1:n.23-698T>C
NM_001400567.1:c.851T>C NP_001387496.1:p.Ile284Thr
NM_001400568.1:c.950T>C NP_001387497.1:p.Ile317Thr
NM_024514.4:c.995T>C NP_078790.2:p.Ile332Thr
NR_174512.1:n.1104-934T>C
NR_174513.1:n.953-934T>C
NR_174514.1:n.1322T>C
NR_174515.1:n.1731T>C
NR_174516.1:n.915-934T>C
NR_174517.1:n.451-934T>C
NR_174518.1:n.1542T>C
NR_174519.1:n.1289T>C
NR_174520.1:n.1080T>C
NR_174521.1:n.1580T>C
NR_174522.1:n.1078T>C
NR_174523.1:n.1489T>C
ENST00000334636.9:c.995T>C ENSP00000334592.5:p.Ile332Thr
ENST00000525015.1:c.67-934T>C
ENST00000526489.5:n.870T>C
ENST00000530609.5:c.*591T>C ENSP00000466060.1:n.*591T>C
ENST00000532378.5:c.296T>C ENSP00000435484.1:p.Ile99Thr
ENST00000532805.1:c.*352+239T>C ENSP00000465097.1:n.*352+239T>C
ENST00000534686.5:c.*591T>C ENSP00000432087.2:n.*591T>C
XM_005252788.1:c.851T>C XP_005252845.1:p.Ile284Thr
XM_005252788.2:c.851T>C XP_005252845.1:p.Ile284Thr
XM_005252789.2:c.833T>C XP_005252846.1:p.Ile278Thr
XM_005252789.3:c.833T>C XP_005252846.1:p.Ile278Thr
XM_005252791.3:c.650T>C XP_005252848.1:p.Ile217Thr
XM_006718142.2:c.950T>C XP_006718205.1:p.Ile317Thr
XM_011519894.1:c.650T>C XP_011518196.1:p.Ile217Thr
XM_011519895.1:c.650T>C XP_011518197.1:p.Ile217Thr
XM_011519895.2:c.650T>C XP_011518197.1:p.Ile217Thr
XM_011519896.1:c.650T>C XP_011518198.1:p.Ile217Thr
XM_011519897.1:c.650T>C XP_011518199.1:p.Ile217Thr
XM_011519898.1:c.650T>C XP_011518200.1:p.Ile217Thr
XM_011519898.3:c.650T>C XP_011518200.1:p.Ile217Thr
XM_017017190.2:c.830T>C XP_016872679.1:p.Ile277Thr
XM_017017191.2:c.650T>C XP_016872680.1:p.Ile217Thr
XM_017017192.2:c.650T>C XP_016872681.1:p.Ile217Thr
XM_017017193.2:c.650T>C XP_016872682.1:p.Ile217Thr
XM_017017194.2:c.650T>C XP_016872683.1:p.Ile217Thr
XM_024448345.1:c.830T>C XP_024304113.1:p.Ile277Thr
XM_024448346.1:c.650T>C XP_024304114.1:p.Ile217Thr
XM_024448347.1:c.650T>C XP_024304115.1:p.Ile217Thr
XM_024448348.1:c.650T>C XP_024304116.1:p.Ile217Thr
XR_002957123.1:n.1011T>C
XR_002957124.1:n.1277T>C
XR_242777.2:n.1048T>C
XR_242777.3:n.1048T>C