Canonical Allele Identifier: CA5896565

Gene: CYP2R1

Linked Data

• dbSNP Id: rs781825948
• ExAC: 11:14900944 T / G
• gnomAD v2: 11-14900944-T-G
• gnomAD v3: 11-14879398-T-G
• gnomAD v4: 11-14879398-T-G
• MyVariant Identifiers: chr11:g.14900944T>G (hg19) ; chr11:g.14879398T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14879398T>G , CM000673.2:g.14879398T>G	GRCh38
NC_000011.9:g.14900944T>G , CM000673.1:g.14900944T>G	GRCh37
NC_000011.8:g.14857520T>G	NCBI36
NG_007936.1:g.17808A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334636.10:c.1046A>C MANE Select	ENSP00000334592.5:p.Lys349Thr
ENST00000334636.9:c.1046A>C	ENSP00000334592.5:p.Lys349Thr
ENST00000525015.1:c.67-191A>C
ENST00000530609.5:c.*642A>C	ENSP00000466060.1:n.*642A>C
ENST00000532378.5:c.347A>C	ENSP00000435484.1:p.Lys116Thr
ENST00000532805.1:c.*353-199A>C	ENSP00000465097.1:n.*353-199A>C
ENST00000534686.5:c.*597-191A>C	ENSP00000432087.2:n.*597-191A>C
NM_024514.4:c.1046A>C	NP_078790.2:p.Lys349Thr
XM_005252788.1:c.902A>C	XP_005252845.1:p.Lys301Thr
XM_005252789.2:c.884A>C	XP_005252846.1:p.Lys295Thr
XM_005252791.3:c.701A>C	XP_005252848.1:p.Lys234Thr
XM_006718142.2:c.1001A>C	XP_006718205.1:p.Lys334Thr
XM_011519894.1:c.701A>C	XP_011518196.1:p.Lys234Thr
XM_011519895.1:c.701A>C	XP_011518197.1:p.Lys234Thr
XM_011519896.1:c.701A>C	XP_011518198.1:p.Lys234Thr
XM_011519897.1:c.701A>C	XP_011518199.1:p.Lys234Thr
XM_011519898.1:c.701A>C	XP_011518200.1:p.Lys234Thr
XR_242777.2:n.1054-191A>C
XM_005252788.2:c.902A>C	XP_005252845.1:p.Lys301Thr
XM_005252789.3:c.884A>C	XP_005252846.1:p.Lys295Thr
XM_011519895.2:c.701A>C	XP_011518197.1:p.Lys234Thr
XM_011519898.3:c.701A>C	XP_011518200.1:p.Lys234Thr
XM_017017190.2:c.881A>C	XP_016872679.1:p.Lys294Thr
XM_017017191.2:c.701A>C	XP_016872680.1:p.Lys234Thr
XM_017017192.2:c.701A>C	XP_016872681.1:p.Lys234Thr
XM_017017193.2:c.701A>C	XP_016872682.1:p.Lys234Thr
XM_017017194.2:c.701A>C	XP_016872683.1:p.Lys234Thr
XM_024448345.1:c.881A>C	XP_024304113.1:p.Lys294Thr
XM_024448346.1:c.701A>C	XP_024304114.1:p.Lys234Thr
XM_024448347.1:c.701A>C	XP_024304115.1:p.Lys234Thr
XM_024448348.1:c.701A>C	XP_024304116.1:p.Lys234Thr
XR_002957123.1:n.1017-191A>C
XR_002957124.1:n.1283-191A>C
XR_242777.3:n.1054-191A>C
NM_001377214.1:c.701A>C	NP_001364143.1:p.Lys234Thr
NM_001377215.1:c.701A>C	NP_001364144.1:p.Lys234Thr
NM_001377216.1:c.701A>C	NP_001364145.1:p.Lys234Thr
NM_001377217.1:c.884A>C	NP_001364146.1:p.Lys295Thr
NM_001377227.1:c.701A>C	NP_001364156.1:p.Lys234Thr
NM_024514.5:c.1046A>C MANE Select	NP_078790.2:p.Lys349Thr
NM_001400558.1:c.701A>C	NP_001387487.1:p.Lys234Thr
NM_001400559.1:c.701A>C	NP_001387488.1:p.Lys234Thr
NM_001400560.1:c.701A>C	NP_001387489.1:p.Lys234Thr
NM_001400561.1:c.701A>C	NP_001387490.1:p.Lys234Thr
NM_001400562.1:c.347A>C	NP_001387491.1:p.Lys116Thr
NM_001400563.1:c.347A>C	NP_001387492.1:p.Lys116Thr
NM_001400564.1:c.347A>C	NP_001387493.1:p.Lys116Thr
NM_001400565.1:c.347A>C	NP_001387494.1:p.Lys116Thr
NM_001400566.1:c.68A>C	NP_001387495.1:p.Lys23Thr
NM_001400567.1:c.902A>C	NP_001387496.1:p.Lys301Thr
NM_001400568.1:c.1001A>C	NP_001387497.1:p.Lys334Thr
NR_174512.1:n.1104-191A>C
NR_174513.1:n.953-191A>C
NR_174514.1:n.1328-191A>C
NR_174515.1:n.1737-191A>C
NR_174516.1:n.915-191A>C
NR_174517.1:n.451-191A>C
NR_174518.1:n.1548-191A>C
NR_174519.1:n.1295-191A>C
NR_174520.1:n.1086-191A>C
NR_174521.1:n.1586-191A>C
NR_174522.1:n.1084-191A>C
NR_174523.1:n.1495-191A>C