Canonical Allele Identifier: CA393164539
Gene: CYP1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74720745A>T , CM000677.2:g.74720745A>T GRCh38
NC_000015.9:g.75013086A>T , CM000677.1:g.75013086A>T GRCh37
NC_000015.8:g.72800139A>T NCBI36
NG_008431.1:g.3204A>T
NG_008431.2:g.3204A>T
NG_061374.1:g.9784T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379727.8:c.1283T>A MANE Select ENSP00000369050.3:p.Leu428Gln
ENST00000379727.7:c.1283T>A ENSP00000369050.3:p.Leu428Gln
ENST00000395048.6:c.1283T>A ENSP00000378488.2:p.Leu428Gln
ENST00000395049.8:c.1196T>A ENSP00000378489.4:p.Leu399Gln
ENST00000562201.5:c.*520T>A ENSP00000455340.1:n.*520T>A
ENST00000564596.5:c.*218T>A ENSP00000457668.1:n.*218T>A
ENST00000566503.1:c.500T>A ENSP00000455846.1:p.Leu167Gln
ENST00000567032.5:c.1283T>A ENSP00000456585.1:p.Leu428Gln
ENST00000569630.5:c.*872T>A ENSP00000455051.1:n.*872T>A
ENST00000612821.4:c.1199T>A ENSP00000479744.1:p.Leu400Gln
ENST00000617691.4:c.1196T>A ENSP00000482863.1:p.Leu399Gln
NM_000499.3:c.1283T>A NP_000490.1:p.Leu428Gln
XM_005254185.1:c.1283T>A XP_005254242.1:p.Leu428Gln
NM_000499.5:c.1283T>A NP_000490.1:p.Leu428Gln
NM_001319216.2:c.1196T>A NP_001306145.1:p.Leu399Gln
NM_001319217.2:c.1283T>A MANE Select NP_001306146.1:p.Leu428Gln