Canonical Allele Identifier: CA346329351
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38074996-G-C
MyVariant Identifiers: chr2:g.38302139G>C (hg19) chr2:g.38074996G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074996G>C , CM000664.2:g.38074996G>C GRCh38
NC_000002.11:g.38302139G>C , CM000664.1:g.38302139G>C GRCh37
NC_000002.10:g.38155643G>C NCBI36
NG_008386.2:g.6106C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.393C>G ENSP00000478839.2:p.Ser131Arg
ENST00000610745.5:c.393C>G MANE Select ENSP00000478561.1:p.Ser131Arg
ENST00000490576.1:c.393C>G ENSP00000478839.1:p.Ser131Arg
ENST00000494864.1:c.-70-3686C>G ENSP00000479876.1:n.-70-3686C>G
ENST00000610745.4:c.393C>G ENSP00000478561.1:p.Ser131Arg
ENST00000613082.1:n.376-588C>G
ENST00000614273.1:c.393C>G ENSP00000483678.1:p.Ser131Arg
NM_000104.3:c.393C>G NP_000095.2:p.Ser131Arg
NM_000104.4:c.393C>G MANE Select NP_000095.2:p.Ser131Arg
Search 100 bp 5'
Search 100 bp 3'