Canonical Allele Identifier: CA379749549

Gene: CYP2R1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14880715C>T , CM000673.2:g.14880715C>T	GRCh38
NC_000011.9:g.14902261C>T , CM000673.1:g.14902261C>T	GRCh37
NC_000011.8:g.14858837C>T	NCBI36
NG_007936.1:g.16491G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024514.5:c.421G>A MANE Select	NP_078790.2:p.Val141Ile
ENST00000334636.10:c.421G>A MANE Select	ENSP00000334592.5:p.Val141Ile
NM_001377214.1:c.76G>A	NP_001364143.1:p.Val26Ile
NM_001377215.1:c.76G>A	NP_001364144.1:p.Val26Ile
NM_001377216.1:c.76G>A	NP_001364145.1:p.Val26Ile
NM_001377217.1:c.259G>A	NP_001364146.1:p.Val87Ile
NM_001377227.1:c.76G>A	NP_001364156.1:p.Val26Ile
NM_001400558.1:c.76G>A	NP_001387487.1:p.Val26Ile
NM_001400559.1:c.76G>A	NP_001387488.1:p.Val26Ile
NM_001400560.1:c.76G>A	NP_001387489.1:p.Val26Ile
NM_001400561.1:c.76G>A	NP_001387490.1:p.Val26Ile
NM_001400562.1:c.78-356G>A	NP_001387491.1:n.78-356G>A
NM_001400563.1:c.78-356G>A	NP_001387492.1:n.78-356G>A
NM_001400564.1:c.78-356G>A	NP_001387493.1:n.78-356G>A
NM_001400565.1:c.78-356G>A	NP_001387494.1:n.78-356G>A
NM_001400566.1:c.23-1272G>A	NP_001387495.1:n.23-1272G>A
NM_001400567.1:c.277G>A	NP_001387496.1:p.Val93Ile
NM_001400568.1:c.376G>A	NP_001387497.1:p.Val126Ile
NM_024514.4:c.421G>A	NP_078790.2:p.Val141Ile
NR_174512.1:n.1104-1508G>A
NR_174513.1:n.953-1508G>A
NR_174514.1:n.1104-356G>A
NR_174515.1:n.1157G>A
NR_174516.1:n.915-1508G>A
NR_174517.1:n.451-1508G>A
NR_174518.1:n.968G>A
NR_174519.1:n.715G>A
NR_174520.1:n.862-356G>A
NR_174521.1:n.1006G>A
NR_174522.1:n.504G>A
NR_174523.1:n.915G>A
ENST00000334636.9:c.421G>A	ENSP00000334592.5:p.Val141Ile
ENST00000525015.1:c.67-1508G>A
ENST00000526276.5:n.325G>A
ENST00000526489.5:n.296G>A
ENST00000529043.1:n.401G>A
ENST00000530609.5:c.*17G>A	ENSP00000466060.1:n.*17G>A
ENST00000532378.5:c.78-356G>A	ENSP00000435484.1:n.78-356G>A
ENST00000532641.1:n.256G>A
ENST00000532805.1:c.*17G>A	ENSP00000465097.1:n.*17G>A
ENST00000534686.5:c.*17G>A	ENSP00000432087.2:n.*17G>A
XM_005252788.1:c.277G>A	XP_005252845.1:p.Val93Ile
XM_005252788.2:c.277G>A	XP_005252845.1:p.Val93Ile
XM_005252789.2:c.259G>A	XP_005252846.1:p.Val87Ile
XM_005252789.3:c.259G>A	XP_005252846.1:p.Val87Ile
XM_005252791.3:c.76G>A	XP_005252848.1:p.Val26Ile
XM_006718142.2:c.376G>A	XP_006718205.1:p.Val126Ile
XM_011519894.1:c.76G>A	XP_011518196.1:p.Val26Ile
XM_011519895.1:c.76G>A	XP_011518197.1:p.Val26Ile
XM_011519895.2:c.76G>A	XP_011518197.1:p.Val26Ile
XM_011519896.1:c.76G>A	XP_011518198.1:p.Val26Ile
XM_011519897.1:c.76G>A	XP_011518199.1:p.Val26Ile
XM_011519898.1:c.76G>A	XP_011518200.1:p.Val26Ile
XM_011519898.3:c.76G>A	XP_011518200.1:p.Val26Ile
XM_017017190.2:c.256G>A	XP_016872679.1:p.Val86Ile
XM_017017191.2:c.76G>A	XP_016872680.1:p.Val26Ile
XM_017017192.2:c.76G>A	XP_016872681.1:p.Val26Ile
XM_017017193.2:c.76G>A	XP_016872682.1:p.Val26Ile
XM_017017194.2:c.76G>A	XP_016872683.1:p.Val26Ile
XM_024448345.1:c.256G>A	XP_024304113.1:p.Val86Ile
XM_024448346.1:c.76G>A	XP_024304114.1:p.Val26Ile
XM_024448347.1:c.76G>A	XP_024304115.1:p.Val26Ile
XM_024448348.1:c.76G>A	XP_024304116.1:p.Val26Ile
XR_002957123.1:n.437G>A
XR_002957124.1:n.703G>A
XR_242777.2:n.474G>A
XR_242777.3:n.474G>A