Canonical Allele Identifier: CA5896623

Gene: CYP2R1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14880263T>C , CM000673.2:g.14880263T>C	GRCh38
NC_000011.9:g.14901809T>C , CM000673.1:g.14901809T>C	GRCh37
NC_000011.8:g.14858385T>C	NCBI36
NG_007936.1:g.16943A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024514.5:c.873A>G MANE Select	NP_078790.2:p.Pro291=
ENST00000334636.10:c.873A>G MANE Select	ENSP00000334592.5:p.Pro291=
NM_001377214.1:c.528A>G	NP_001364143.1:p.Pro176=
NM_001377215.1:c.528A>G	NP_001364144.1:p.Pro176=
NM_001377216.1:c.528A>G	NP_001364145.1:p.Pro176=
NM_001377217.1:c.711A>G	NP_001364146.1:p.Pro237=
NM_001377227.1:c.528A>G	NP_001364156.1:p.Pro176=
NM_001400558.1:c.528A>G	NP_001387487.1:p.Pro176=
NM_001400559.1:c.528A>G	NP_001387488.1:p.Pro176=
NM_001400560.1:c.528A>G	NP_001387489.1:p.Pro176=
NM_001400561.1:c.528A>G	NP_001387490.1:p.Pro176=
NM_001400562.1:c.174A>G	NP_001387491.1:p.Pro58=
NM_001400563.1:c.174A>G	NP_001387492.1:p.Pro58=
NM_001400564.1:c.174A>G	NP_001387493.1:p.Pro58=
NM_001400565.1:c.174A>G	NP_001387494.1:p.Pro58=
NM_001400566.1:c.23-820A>G	NP_001387495.1:n.23-820A>G
NM_001400567.1:c.729A>G	NP_001387496.1:p.Pro243=
NM_001400568.1:c.828A>G	NP_001387497.1:p.Pro276=
NM_024514.4:c.873A>G	NP_078790.2:p.Pro291=
NR_174512.1:n.1104-1056A>G
NR_174513.1:n.953-1056A>G
NR_174514.1:n.1200A>G
NR_174515.1:n.1609A>G
NR_174516.1:n.915-1056A>G
NR_174517.1:n.451-1056A>G
NR_174518.1:n.1420A>G
NR_174519.1:n.1167A>G
NR_174520.1:n.958A>G
NR_174521.1:n.1458A>G
NR_174522.1:n.956A>G
NR_174523.1:n.1367A>G
ENST00000334636.9:c.873A>G	ENSP00000334592.5:p.Pro291=
ENST00000525015.1:c.67-1056A>G
ENST00000526489.5:n.748A>G
ENST00000530609.5:c.*469A>G	ENSP00000466060.1:n.*469A>G
ENST00000532378.5:c.174A>G	ENSP00000435484.1:p.Pro58=
ENST00000532805.1:c.*352+117A>G	ENSP00000465097.1:n.*352+117A>G
ENST00000534686.5:c.*469A>G	ENSP00000432087.2:n.*469A>G
XM_005252788.1:c.729A>G	XP_005252845.1:p.Pro243=
XM_005252788.2:c.729A>G	XP_005252845.1:p.Pro243=
XM_005252789.2:c.711A>G	XP_005252846.1:p.Pro237=
XM_005252789.3:c.711A>G	XP_005252846.1:p.Pro237=
XM_005252791.3:c.528A>G	XP_005252848.1:p.Pro176=
XM_006718142.2:c.828A>G	XP_006718205.1:p.Pro276=
XM_011519894.1:c.528A>G	XP_011518196.1:p.Pro176=
XM_011519895.1:c.528A>G	XP_011518197.1:p.Pro176=
XM_011519895.2:c.528A>G	XP_011518197.1:p.Pro176=
XM_011519896.1:c.528A>G	XP_011518198.1:p.Pro176=
XM_011519897.1:c.528A>G	XP_011518199.1:p.Pro176=
XM_011519898.1:c.528A>G	XP_011518200.1:p.Pro176=
XM_011519898.3:c.528A>G	XP_011518200.1:p.Pro176=
XM_017017190.2:c.708A>G	XP_016872679.1:p.Pro236=
XM_017017191.2:c.528A>G	XP_016872680.1:p.Pro176=
XM_017017192.2:c.528A>G	XP_016872681.1:p.Pro176=
XM_017017193.2:c.528A>G	XP_016872682.1:p.Pro176=
XM_017017194.2:c.528A>G	XP_016872683.1:p.Pro176=
XM_024448345.1:c.708A>G	XP_024304113.1:p.Pro236=
XM_024448346.1:c.528A>G	XP_024304114.1:p.Pro176=
XM_024448347.1:c.528A>G	XP_024304115.1:p.Pro176=
XM_024448348.1:c.528A>G	XP_024304116.1:p.Pro176=
XR_002957123.1:n.889A>G
XR_002957124.1:n.1155A>G
XR_242777.2:n.926A>G
XR_242777.3:n.926A>G