Canonical Allele Identifier: CA379733159
Gene: CYP2R1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14885802A>C , CM000673.2:g.14885802A>C GRCh38
NC_000011.9:g.14907348A>C , CM000673.1:g.14907348A>C GRCh37
NC_000011.8:g.14863924A>C NCBI36
NG_007936.1:g.11404T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334636.10:c.341T>G MANE Select ENSP00000334592.5:p.Leu114Ter
ENST00000334636.9:c.341T>G ENSP00000334592.5:p.Leu114Ter
ENST00000525015.1:c.40T>G
ENST00000526276.5:n.245T>G
ENST00000526489.5:n.216T>G
ENST00000529043.1:n.321T>G
ENST00000530609.5:c.51T>G ENSP00000466060.1:p.Phe17Leu
ENST00000532378.5:c.51T>G ENSP00000435484.1:p.Phe17Leu
ENST00000532641.1:n.176T>G
ENST00000532805.1:c.51T>G ENSP00000465097.1:p.Phe17Leu
ENST00000534686.5:c.51T>G ENSP00000432087.2:p.Phe17Leu
NM_024514.4:c.341T>G NP_078790.2:p.Leu114Ter
XM_005252788.1:c.197T>G XP_005252845.1:p.Leu66Ter
XM_005252789.2:c.179T>G XP_005252846.1:p.Leu60Ter
XM_005252791.3:c.-5T>G XP_005252848.1:n.-5T>G
XM_006718142.2:c.296T>G XP_006718205.1:p.Leu99Ter
XM_011519894.1:c.-5T>G XP_011518196.1:n.-5T>G
XM_011519895.1:c.-5T>G XP_011518197.1:n.-5T>G
XM_011519896.1:c.-5T>G XP_011518198.1:n.-5T>G
XM_011519897.1:c.-5T>G XP_011518199.1:n.-5T>G
XM_011519898.1:c.-5T>G XP_011518200.1:n.-5T>G
XR_242777.2:n.394T>G
XM_005252788.2:c.197T>G XP_005252845.1:p.Leu66Ter
XM_005252789.3:c.179T>G XP_005252846.1:p.Leu60Ter
XM_011519895.2:c.-5T>G XP_011518197.1:n.-5T>G
XM_011519898.3:c.-5T>G XP_011518200.1:n.-5T>G
XM_017017190.2:c.176T>G XP_016872679.1:p.Leu59Ter
XM_017017191.2:c.-5T>G XP_016872680.1:n.-5T>G
XM_017017192.2:c.-5T>G XP_016872681.1:n.-5T>G
XM_017017193.2:c.-5T>G XP_016872682.1:n.-5T>G
XM_017017194.2:c.-5T>G XP_016872683.1:n.-5T>G
XM_024448345.1:c.176T>G XP_024304113.1:p.Leu59Ter
XM_024448346.1:c.-5T>G XP_024304114.1:n.-5T>G
XM_024448347.1:c.-5T>G XP_024304115.1:n.-5T>G
XM_024448348.1:c.-5T>G XP_024304116.1:n.-5T>G
XR_002957123.1:n.357T>G
XR_002957124.1:n.623T>G
XR_242777.3:n.394T>G
NM_001377214.1:c.-5T>G NP_001364143.1:n.-5T>G
NM_001377215.1:c.-5T>G NP_001364144.1:n.-5T>G
NM_001377216.1:c.-5T>G NP_001364145.1:n.-5T>G
NM_001377217.1:c.179T>G NP_001364146.1:p.Leu60Ter
NM_001377227.1:c.-5T>G NP_001364156.1:n.-5T>G
NM_024514.5:c.341T>G MANE Select NP_078790.2:p.Leu114Ter
NM_001400558.1:c.-5T>G NP_001387487.1:n.-5T>G
NM_001400559.1:c.-5T>G NP_001387488.1:n.-5T>G
NM_001400560.1:c.-5T>G NP_001387489.1:n.-5T>G
NM_001400561.1:c.-5T>G NP_001387490.1:n.-5T>G
NM_001400562.1:c.51T>G NP_001387491.1:p.Phe17Leu
NM_001400563.1:c.51T>G NP_001387492.1:p.Phe17Leu
NM_001400564.1:c.51T>G NP_001387493.1:p.Phe17Leu
NM_001400565.1:c.51T>G NP_001387494.1:p.Phe17Leu
NM_001400566.1:c.-5T>G NP_001387495.1:n.-5T>G
NM_001400567.1:c.197T>G NP_001387496.1:p.Leu66Ter
NM_001400568.1:c.296T>G NP_001387497.1:p.Leu99Ter
NR_174512.1:n.1077T>G
NR_174513.1:n.926T>G
NR_174514.1:n.1077T>G
NR_174515.1:n.1077T>G
NR_174516.1:n.888T>G
NR_174517.1:n.424T>G
NR_174518.1:n.888T>G
NR_174519.1:n.635T>G
NR_174520.1:n.835T>G
NR_174521.1:n.926T>G
NR_174522.1:n.424T>G
NR_174523.1:n.835T>G