Canonical Allele Identifier: CA393164523
Gene: CYP1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74720740C>G , CM000677.2:g.74720740C>G GRCh38
NC_000015.9:g.75013081C>G , CM000677.1:g.75013081C>G GRCh37
NC_000015.8:g.72800134C>G NCBI36
NG_008431.1:g.3199C>G
NG_008431.2:g.3199C>G
NG_061374.1:g.9789G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379727.8:c.1288G>C MANE Select ENSP00000369050.3:p.Glu430Gln
ENST00000379727.7:c.1288G>C ENSP00000369050.3:p.Glu430Gln
ENST00000395048.6:c.1288G>C ENSP00000378488.2:p.Glu430Gln
ENST00000395049.8:c.1201G>C ENSP00000378489.4:p.Glu401Gln
ENST00000562201.5:c.*525G>C ENSP00000455340.1:n.*525G>C
ENST00000564596.5:c.*223G>C ENSP00000457668.1:n.*223G>C
ENST00000566503.1:c.505G>C ENSP00000455846.1:p.Glu169Gln
ENST00000567032.5:c.1288G>C ENSP00000456585.1:p.Glu430Gln
ENST00000569630.5:c.*877G>C ENSP00000455051.1:n.*877G>C
ENST00000612821.4:c.1204G>C ENSP00000479744.1:p.Glu402Gln
ENST00000617691.4:c.1201G>C ENSP00000482863.1:p.Glu401Gln
NM_000499.3:c.1288G>C NP_000490.1:p.Glu430Gln
XM_005254185.1:c.1288G>C XP_005254242.1:p.Glu430Gln
NM_000499.5:c.1288G>C NP_000490.1:p.Glu430Gln
NM_001319216.2:c.1201G>C NP_001306145.1:p.Glu401Gln
NM_001319217.2:c.1288G>C MANE Select NP_001306146.1:p.Glu430Gln