Canonical Allele Identifier: CA379733459

Gene: CYP2R1

Linked Data

• dbSNP Id: rs201553303
• gnomAD v4: 11-14885844-A-T
• MyVariant Identifiers: chr11:g.14907390A>T (hg19) ; chr11:g.14885844A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14885844A>T , CM000673.2:g.14885844A>T	GRCh38
NC_000011.9:g.14907390A>T , CM000673.1:g.14907390A>T	GRCh37
NC_000011.8:g.14863966A>T	NCBI36
NG_007936.1:g.11362T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334636.10:c.299T>A MANE Select	ENSP00000334592.5:p.Val100Asp
ENST00000334636.9:c.299T>A	ENSP00000334592.5:p.Val100Asp
ENST00000526276.5:n.203T>A
ENST00000526489.5:n.174T>A
ENST00000529043.1:n.279T>A
ENST00000530609.5:c.9T>A	ENSP00000466060.1:p.Cys3Ter
ENST00000532378.5:c.9T>A	ENSP00000435484.1:p.Cys3Ter
ENST00000532641.1:n.134T>A
ENST00000532805.1:c.9T>A	ENSP00000465097.1:p.Cys3Ter
ENST00000534686.5:c.9T>A	ENSP00000432087.2:p.Cys3Ter
NM_024514.4:c.299T>A	NP_078790.2:p.Val100Asp
XM_005252788.1:c.155T>A	XP_005252845.1:p.Val52Asp
XM_005252789.2:c.137T>A	XP_005252846.1:p.Val46Asp
XM_005252791.3:c.-47T>A	XP_005252848.1:n.-47T>A
XM_006718142.2:c.254T>A	XP_006718205.1:p.Val85Asp
XM_011519894.1:c.-47T>A	XP_011518196.1:n.-47T>A
XM_011519895.1:c.-47T>A	XP_011518197.1:n.-47T>A
XM_011519896.1:c.-47T>A	XP_011518198.1:n.-47T>A
XM_011519897.1:c.-47T>A	XP_011518199.1:n.-47T>A
XM_011519898.1:c.-47T>A	XP_011518200.1:n.-47T>A
XR_242777.2:n.352T>A
XM_005252788.2:c.155T>A	XP_005252845.1:p.Val52Asp
XM_005252789.3:c.137T>A	XP_005252846.1:p.Val46Asp
XM_011519895.2:c.-47T>A	XP_011518197.1:n.-47T>A
XM_011519898.3:c.-47T>A	XP_011518200.1:n.-47T>A
XM_017017190.2:c.134T>A	XP_016872679.1:p.Val45Asp
XM_017017191.2:c.-47T>A	XP_016872680.1:n.-47T>A
XM_017017192.2:c.-47T>A	XP_016872681.1:n.-47T>A
XM_017017193.2:c.-47T>A	XP_016872682.1:n.-47T>A
XM_017017194.2:c.-47T>A	XP_016872683.1:n.-47T>A
XM_024448345.1:c.134T>A	XP_024304113.1:p.Val45Asp
XM_024448346.1:c.-47T>A	XP_024304114.1:n.-47T>A
XM_024448347.1:c.-47T>A	XP_024304115.1:n.-47T>A
XM_024448348.1:c.-47T>A	XP_024304116.1:n.-47T>A
XR_002957123.1:n.315T>A
XR_002957124.1:n.581T>A
XR_242777.3:n.352T>A
NM_001377214.1:c.-47T>A	NP_001364143.1:n.-47T>A
NM_001377215.1:c.-47T>A	NP_001364144.1:n.-47T>A
NM_001377216.1:c.-47T>A	NP_001364145.1:n.-47T>A
NM_001377217.1:c.137T>A	NP_001364146.1:p.Val46Asp
NM_001377227.1:c.-47T>A	NP_001364156.1:n.-47T>A
NM_024514.5:c.299T>A MANE Select	NP_078790.2:p.Val100Asp
NM_001400558.1:c.-47T>A	NP_001387487.1:n.-47T>A
NM_001400559.1:c.-47T>A	NP_001387488.1:n.-47T>A
NM_001400560.1:c.-47T>A	NP_001387489.1:n.-47T>A
NM_001400561.1:c.-47T>A	NP_001387490.1:n.-47T>A
NM_001400562.1:c.9T>A	NP_001387491.1:p.Cys3Ter
NM_001400563.1:c.9T>A	NP_001387492.1:p.Cys3Ter
NM_001400564.1:c.9T>A	NP_001387493.1:p.Cys3Ter
NM_001400565.1:c.9T>A	NP_001387494.1:p.Cys3Ter
NM_001400566.1:c.-47T>A	NP_001387495.1:n.-47T>A
NM_001400567.1:c.155T>A	NP_001387496.1:p.Val52Asp
NM_001400568.1:c.254T>A	NP_001387497.1:p.Val85Asp
NR_174512.1:n.1035T>A
NR_174513.1:n.884T>A
NR_174514.1:n.1035T>A
NR_174515.1:n.1035T>A
NR_174516.1:n.846T>A
NR_174517.1:n.382T>A
NR_174518.1:n.846T>A
NR_174519.1:n.593T>A
NR_174520.1:n.793T>A
NR_174521.1:n.884T>A
NR_174522.1:n.382T>A
NR_174523.1:n.793T>A