Canonical Allele Identifier: CA45506319
Gene: CYP1B1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.38071060G>C
gnomAD v3:
2:38071060 G / C
gnomAD v4:
chr2-38071060-G-C
Joint Max Group AF 0.77215074 (AFR)
Genomes Max Group AF 0.76695668 (AFR)
Exomes Max Group AF 0.77371255 (AFR)
ClinVar RCV:
RCV000525533
RCV002248761
ClinVar Variation:
456637
dbSNP:
1056836
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071060G>C , CM000664.2:g.38071060G>C GRCh38
NG_008386.2:g.10042C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1294C>G ENSP00000478839.2:p.Leu432Val
ENST00000610745.5:c.1294C>G MANE Select ENSP00000478561.1:p.Leu432Val
ENST00000492443.1:n.672C>G
ENST00000494864.1:c.181C>G ENSP00000479876.1:p.Leu61Val
ENST00000610745.4:c.1294C>G ENSP00000478561.1:p.Leu432Val
ENST00000614273.1:c.1294C>G ENSP00000483678.1:p.Leu432Val
NM_000104.3:c.1294C>G NP_000095.2:p.Leu432Val
NM_000104.4:c.1294C>G MANE Select NP_000095.2:p.Leu432Val
Search 100 bp 5'
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