Canonical Allele Identifier: CA145182
Gene: CYP1B1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.38075148A>T
GRCh37 chr2:g.38302291A>T
Revel Score:
ENST00000260630 0.811
ENST00000407341 0.811
gnomAD v2:
2:38302291 A / T
gnomAD v3:
2:38075148 A / T
gnomAD v4:
chr2-38075148-A-T
Joint Max Group AF 0.00400697 (NFE)
Genomes Max Group AF 0.00414042 (NFE)
Exomes Max Group AF 0.00397577 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075148A>T , CM000664.2:g.38075148A>T GRCh38
NC_000002.11:g.38302291A>T , CM000664.1:g.38302291A>T GRCh37
NC_000002.10:g.38155795A>T NCBI36
NG_008386.2:g.5954T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.241T>A ENSP00000478839.2:p.Tyr81Asn
ENST00000610745.5:c.241T>A MANE Select ENSP00000478561.1:p.Tyr81Asn
ENST00000490576.1:c.241T>A ENSP00000478839.1:p.Tyr81Asn
ENST00000494864.1:c.-70-3838T>A ENSP00000479876.1:n.-70-3838T>A
ENST00000610745.4:c.241T>A ENSP00000478561.1:p.Tyr81Asn
ENST00000613082.1:n.375+632T>A
ENST00000614273.1:c.241T>A ENSP00000483678.1:p.Tyr81Asn
NM_000104.3:c.241T>A NP_000095.2:p.Tyr81Asn
NM_000104.4:c.241T>A MANE Select NP_000095.2:p.Tyr81Asn
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