Canonical Allele Identifier: CA393164537
Gene: CYP1A1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000379727.8:c.1283T>C MANE Select ENSP00000369050.3:p.Leu428Pro
ENST00000379727.7:c.1283T>C ENSP00000369050.3:p.Leu428Pro
ENST00000395048.6:c.1283T>C ENSP00000378488.2:p.Leu428Pro
ENST00000395049.8:c.1196T>C ENSP00000378489.4:p.Leu399Pro
ENST00000562201.5:c.*520T>C ENSP00000455340.1:n.*520T>C
ENST00000564596.5:c.*218T>C ENSP00000457668.1:n.*218T>C
ENST00000566503.1:c.500T>C ENSP00000455846.1:p.Leu167Pro
ENST00000567032.5:c.1283T>C ENSP00000456585.1:p.Leu428Pro
ENST00000569630.5:c.*872T>C ENSP00000455051.1:n.*872T>C
ENST00000612821.4:c.1199T>C ENSP00000479744.1:p.Leu400Pro
ENST00000617691.4:c.1196T>C ENSP00000482863.1:p.Leu399Pro
NM_000499.3:c.1283T>C NP_000490.1:p.Leu428Pro
XM_005254185.1:c.1283T>C XP_005254242.1:p.Leu428Pro
NM_000499.5:c.1283T>C NP_000490.1:p.Leu428Pro
NM_001319216.2:c.1196T>C NP_001306145.1:p.Leu399Pro
NM_001319217.2:c.1283T>C MANE Select NP_001306146.1:p.Leu428Pro