Canonical Allele Identifier: CA393164503
Gene: CYP1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74720734A>G , CM000677.2:g.74720734A>G GRCh38
NC_000015.9:g.75013075A>G , CM000677.1:g.75013075A>G GRCh37
NC_000015.8:g.72800128A>G NCBI36
NG_008431.1:g.3193A>G
NG_008431.2:g.3193A>G
NG_061374.1:g.9795T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379727.8:c.1294T>C MANE Select ENSP00000369050.3:p.Phe432Leu
ENST00000379727.7:c.1294T>C ENSP00000369050.3:p.Phe432Leu
ENST00000395048.6:c.1294T>C ENSP00000378488.2:p.Phe432Leu
ENST00000395049.8:c.1207T>C ENSP00000378489.4:p.Phe403Leu
ENST00000562201.5:c.*531T>C ENSP00000455340.1:n.*531T>C
ENST00000564596.5:c.*229T>C ENSP00000457668.1:n.*229T>C
ENST00000566503.1:c.511T>C ENSP00000455846.1:p.Phe171Leu
ENST00000567032.5:c.1294T>C ENSP00000456585.1:p.Phe432Leu
ENST00000569630.5:c.*883T>C ENSP00000455051.1:n.*883T>C
ENST00000612821.4:c.1210T>C ENSP00000479744.1:p.Phe404Leu
ENST00000617691.4:c.1207T>C ENSP00000482863.1:p.Phe403Leu
NM_000499.3:c.1294T>C NP_000490.1:p.Phe432Leu
XM_005254185.1:c.1294T>C XP_005254242.1:p.Phe432Leu
NM_000499.5:c.1294T>C NP_000490.1:p.Phe432Leu
NM_001319216.2:c.1207T>C NP_001306145.1:p.Phe403Leu
NM_001319217.2:c.1294T>C MANE Select NP_001306146.1:p.Phe432Leu