Canonical Allele Identifier: CA7659241
Gene: CYP1A1 HGNC NCBI
COSMIC:
COSM3999600 (not active)
MyVariant.info:
GRCh38 chr15:g.74720644T>C
GRCh37 chr15:g.75012985T>C
Revel Score:
ENST00000379727 (MANE Select) 0.180
ENST00000395048 0.180
ENST00000395049 0.180
ENST00000268062 0.180
gnomAD v2:
15:75012985 T / C
gnomAD v3:
15:74720644 T / C
gnomAD v4:
chr15-74720644-T-C
Joint Max Group AF 0.33084582 (AMR)
Genomes Max Group AF 0.2456767 (AMR)
Exomes Max Group AF 0.35823456 (AMR)
ClinVar Allele:
3200914
ClinVar RCV:
RCV003984578
ClinVar Variation:
3060599
dbSNP:
1048943
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74720644T>C , CM000677.2:g.74720644T>C GRCh38
NC_000015.9:g.75012985T>C , CM000677.1:g.75012985T>C GRCh37
NC_000015.8:g.72800038T>C NCBI36
NG_008431.1:g.3103T>C
NG_008431.2:g.3103T>C
NG_061374.1:g.9885A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379727.8:c.1384A>G MANE Select ENSP00000369050.3:p.Ile462Val
ENST00000379727.7:c.1384A>G ENSP00000369050.3:p.Ile462Val
ENST00000395048.6:c.1384A>G ENSP00000378488.2:p.Ile462Val
ENST00000395049.8:c.1297A>G ENSP00000378489.4:p.Ile433Val
ENST00000567032.5:c.1384A>G ENSP00000456585.1:p.Ile462Val
ENST00000612821.4:c.1300A>G ENSP00000479744.1:p.Ile434Val
ENST00000617691.4:c.1297A>G ENSP00000482863.1:p.Ile433Val
NM_000499.3:c.1384A>G NP_000490.1:p.Ile462Val
XM_005254185.1:c.1384A>G XP_005254242.1:p.Ile462Val
NM_000499.5:c.1384A>G NP_000490.1:p.Ile462Val
NM_001319216.2:c.1297A>G NP_001306145.1:p.Ile433Val
NM_001319217.2:c.1384A>G MANE Select NP_001306146.1:p.Ile462Val
Search 100 bp 5'
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