Canonical Allele Identifier: CA379733196
Gene: CYP2R1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14885805G>C , CM000673.2:g.14885805G>C GRCh38
NC_000011.9:g.14907351G>C , CM000673.1:g.14907351G>C GRCh37
NC_000011.8:g.14863927G>C NCBI36
NG_007936.1:g.11401C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334636.10:c.338C>G MANE Select ENSP00000334592.5:p.Pro113Arg
ENST00000334636.9:c.338C>G ENSP00000334592.5:p.Pro113Arg
ENST00000525015.1:c.37C>G
ENST00000526276.5:n.242C>G
ENST00000526489.5:n.213C>G
ENST00000529043.1:n.318C>G
ENST00000530609.5:c.48C>G ENSP00000466060.1:p.Ser16=
ENST00000532378.5:c.48C>G ENSP00000435484.1:p.Ser16=
ENST00000532641.1:n.173C>G
ENST00000532805.1:c.48C>G ENSP00000465097.1:p.Ser16=
ENST00000534686.5:c.48C>G ENSP00000432087.2:p.Ser16=
NM_024514.4:c.338C>G NP_078790.2:p.Pro113Arg
XM_005252788.1:c.194C>G XP_005252845.1:p.Pro65Arg
XM_005252789.2:c.176C>G XP_005252846.1:p.Pro59Arg
XM_005252791.3:c.-8C>G XP_005252848.1:n.-8C>G
XM_006718142.2:c.293C>G XP_006718205.1:p.Pro98Arg
XM_011519894.1:c.-8C>G XP_011518196.1:n.-8C>G
XM_011519895.1:c.-8C>G XP_011518197.1:n.-8C>G
XM_011519896.1:c.-8C>G XP_011518198.1:n.-8C>G
XM_011519897.1:c.-8C>G XP_011518199.1:n.-8C>G
XM_011519898.1:c.-8C>G XP_011518200.1:n.-8C>G
XR_242777.2:n.391C>G
XM_005252788.2:c.194C>G XP_005252845.1:p.Pro65Arg
XM_005252789.3:c.176C>G XP_005252846.1:p.Pro59Arg
XM_011519895.2:c.-8C>G XP_011518197.1:n.-8C>G
XM_011519898.3:c.-8C>G XP_011518200.1:n.-8C>G
XM_017017190.2:c.173C>G XP_016872679.1:p.Pro58Arg
XM_017017191.2:c.-8C>G XP_016872680.1:n.-8C>G
XM_017017192.2:c.-8C>G XP_016872681.1:n.-8C>G
XM_017017193.2:c.-8C>G XP_016872682.1:n.-8C>G
XM_017017194.2:c.-8C>G XP_016872683.1:n.-8C>G
XM_024448345.1:c.173C>G XP_024304113.1:p.Pro58Arg
XM_024448346.1:c.-8C>G XP_024304114.1:n.-8C>G
XM_024448347.1:c.-8C>G XP_024304115.1:n.-8C>G
XM_024448348.1:c.-8C>G XP_024304116.1:n.-8C>G
XR_002957123.1:n.354C>G
XR_002957124.1:n.620C>G
XR_242777.3:n.391C>G
NM_001377214.1:c.-8C>G NP_001364143.1:n.-8C>G
NM_001377215.1:c.-8C>G NP_001364144.1:n.-8C>G
NM_001377216.1:c.-8C>G NP_001364145.1:n.-8C>G
NM_001377217.1:c.176C>G NP_001364146.1:p.Pro59Arg
NM_001377227.1:c.-8C>G NP_001364156.1:n.-8C>G
NM_024514.5:c.338C>G MANE Select NP_078790.2:p.Pro113Arg
NM_001400558.1:c.-8C>G NP_001387487.1:n.-8C>G
NM_001400559.1:c.-8C>G NP_001387488.1:n.-8C>G
NM_001400560.1:c.-8C>G NP_001387489.1:n.-8C>G
NM_001400561.1:c.-8C>G NP_001387490.1:n.-8C>G
NM_001400562.1:c.48C>G NP_001387491.1:p.Ser16=
NM_001400563.1:c.48C>G NP_001387492.1:p.Ser16=
NM_001400564.1:c.48C>G NP_001387493.1:p.Ser16=
NM_001400565.1:c.48C>G NP_001387494.1:p.Ser16=
NM_001400566.1:c.-8C>G NP_001387495.1:n.-8C>G
NM_001400567.1:c.194C>G NP_001387496.1:p.Pro65Arg
NM_001400568.1:c.293C>G NP_001387497.1:p.Pro98Arg
NR_174512.1:n.1074C>G
NR_174513.1:n.923C>G
NR_174514.1:n.1074C>G
NR_174515.1:n.1074C>G
NR_174516.1:n.885C>G
NR_174517.1:n.421C>G
NR_174518.1:n.885C>G
NR_174519.1:n.632C>G
NR_174520.1:n.832C>G
NR_174521.1:n.923C>G
NR_174522.1:n.421C>G
NR_174523.1:n.832C>G