Canonical Allele Identifier: CA346329088
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1374128117
gnomAD v2: 2-38302018-T-C
MyVariant Identifiers: chr2:g.38302018T>C (hg19) chr2:g.38074875T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074875T>C , CM000664.2:g.38074875T>C GRCh38
NC_000002.11:g.38302018T>C , CM000664.1:g.38302018T>C GRCh37
NC_000002.10:g.38155522T>C NCBI36
NG_008386.2:g.6227A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.514A>G ENSP00000478839.2:p.Ser172Gly
ENST00000610745.5:c.514A>G MANE Select ENSP00000478561.1:p.Ser172Gly
ENST00000494864.1:c.-70-3565A>G ENSP00000479876.1:n.-70-3565A>G
ENST00000610745.4:c.514A>G ENSP00000478561.1:p.Ser172Gly
ENST00000613082.1:n.376-467A>G
ENST00000614273.1:c.514A>G ENSP00000483678.1:p.Ser172Gly
NM_000104.3:c.514A>G NP_000095.2:p.Ser172Gly
NM_000104.4:c.514A>G MANE Select NP_000095.2:p.Ser172Gly
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