Canonical Allele Identifier: CA346329082
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1682500247
gnomAD v4: 2-38074873-G-C
MyVariant Identifiers: chr2:g.38302016G>C (hg19) chr2:g.38074873G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074873G>C , CM000664.2:g.38074873G>C GRCh38
NC_000002.11:g.38302016G>C , CM000664.1:g.38302016G>C GRCh37
NC_000002.10:g.38155520G>C NCBI36
NG_008386.2:g.6229C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.516C>G ENSP00000478839.2:p.Ser172Arg
ENST00000610745.5:c.516C>G MANE Select ENSP00000478561.1:p.Ser172Arg
ENST00000494864.1:c.-70-3563C>G ENSP00000479876.1:n.-70-3563C>G
ENST00000610745.4:c.516C>G ENSP00000478561.1:p.Ser172Arg
ENST00000613082.1:n.376-465C>G
ENST00000614273.1:c.516C>G ENSP00000483678.1:p.Ser172Arg
NM_000104.3:c.516C>G NP_000095.2:p.Ser172Arg
NM_000104.4:c.516C>G MANE Select NP_000095.2:p.Ser172Arg
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