Canonical Allele Identifier: CA379744792
Gene: CYP2R1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14879183G>C , CM000673.2:g.14879183G>C GRCh38
NC_000011.9:g.14900729G>C , CM000673.1:g.14900729G>C GRCh37
NC_000011.8:g.14857305G>C NCBI36
NG_007936.1:g.18023C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334636.10:c.1261C>G MANE Select ENSP00000334592.5:p.His421Asp
ENST00000334636.9:c.1261C>G ENSP00000334592.5:p.His421Asp
ENST00000525015.1:c.91C>G
ENST00000530609.5:c.*857C>G ENSP00000466060.1:n.*857C>G
ENST00000532378.5:c.562C>G ENSP00000435484.1:p.His188Asp
ENST00000532805.1:c.*369C>G ENSP00000465097.1:n.*369C>G
ENST00000534686.5:c.*621C>G ENSP00000432087.2:n.*621C>G
NM_024514.4:c.1261C>G NP_078790.2:p.His421Asp
XM_005252788.1:c.1117C>G XP_005252845.1:p.His373Asp
XM_005252789.2:c.1099C>G XP_005252846.1:p.His367Asp
XM_005252791.3:c.916C>G XP_005252848.1:p.His306Asp
XM_006718142.2:c.1216C>G XP_006718205.1:p.His406Asp
XM_011519894.1:c.916C>G XP_011518196.1:p.His306Asp
XM_011519895.1:c.916C>G XP_011518197.1:p.His306Asp
XM_011519896.1:c.916C>G XP_011518198.1:p.His306Asp
XM_011519897.1:c.916C>G XP_011518199.1:p.His306Asp
XM_011519898.1:c.916C>G XP_011518200.1:p.His306Asp
XR_242777.2:n.1078C>G
XM_005252788.2:c.1117C>G XP_005252845.1:p.His373Asp
XM_005252789.3:c.1099C>G XP_005252846.1:p.His367Asp
XM_011519895.2:c.916C>G XP_011518197.1:p.His306Asp
XM_011519898.3:c.916C>G XP_011518200.1:p.His306Asp
XM_017017190.2:c.1096C>G XP_016872679.1:p.His366Asp
XM_017017191.2:c.916C>G XP_016872680.1:p.His306Asp
XM_017017192.2:c.916C>G XP_016872681.1:p.His306Asp
XM_017017193.2:c.916C>G XP_016872682.1:p.His306Asp
XM_017017194.2:c.916C>G XP_016872683.1:p.His306Asp
XM_024448345.1:c.1096C>G XP_024304113.1:p.His366Asp
XM_024448346.1:c.916C>G XP_024304114.1:p.His306Asp
XM_024448347.1:c.916C>G XP_024304115.1:p.His306Asp
XM_024448348.1:c.916C>G XP_024304116.1:p.His306Asp
XR_002957123.1:n.1041C>G
XR_002957124.1:n.1307C>G
XR_242777.3:n.1078C>G
NM_001377214.1:c.916C>G NP_001364143.1:p.His306Asp
NM_001377215.1:c.916C>G NP_001364144.1:p.His306Asp
NM_001377216.1:c.916C>G NP_001364145.1:p.His306Asp
NM_001377217.1:c.1099C>G NP_001364146.1:p.His367Asp
NM_001377227.1:c.916C>G NP_001364156.1:p.His306Asp
NM_024514.5:c.1261C>G MANE Select NP_078790.2:p.His421Asp
NM_001400558.1:c.916C>G NP_001387487.1:p.His306Asp
NM_001400559.1:c.916C>G NP_001387488.1:p.His306Asp
NM_001400560.1:c.916C>G NP_001387489.1:p.His306Asp
NM_001400561.1:c.916C>G NP_001387490.1:p.His306Asp
NM_001400562.1:c.562C>G NP_001387491.1:p.His188Asp
NM_001400563.1:c.562C>G NP_001387492.1:p.His188Asp
NM_001400564.1:c.562C>G NP_001387493.1:p.His188Asp
NM_001400565.1:c.562C>G NP_001387494.1:p.His188Asp
NM_001400566.1:c.283C>G NP_001387495.1:p.His95Asp
NM_001400567.1:c.1117C>G NP_001387496.1:p.His373Asp
NM_001400568.1:c.1216C>G NP_001387497.1:p.His406Asp
NR_174512.1:n.1128C>G
NR_174513.1:n.977C>G
NR_174514.1:n.1352C>G
NR_174515.1:n.1761C>G
NR_174516.1:n.939C>G
NR_174517.1:n.475C>G
NR_174518.1:n.1572C>G
NR_174519.1:n.1319C>G
NR_174520.1:n.1110C>G
NR_174521.1:n.1610C>G
NR_174522.1:n.1108C>G
NR_174523.1:n.1519C>G