Canonical Allele Identifier: CA1619779
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs369311647
ExAC: 2:38298043 G / C
gnomAD v2: 2-38298043-G-C
gnomAD v3: 2-38070900-G-C
gnomAD v4: 2-38070900-G-C
MyVariant Identifiers: chr2:g.38298043G>C (hg19) chr2:g.38070900G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070900G>C , CM000664.2:g.38070900G>C GRCh38
NC_000002.11:g.38298043G>C , CM000664.1:g.38298043G>C GRCh37
NC_000002.10:g.38151547G>C NCBI36
NG_008386.2:g.10202C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1454C>G ENSP00000478839.2:p.Ser485Cys
ENST00000610745.5:c.1454C>G MANE Select ENSP00000478561.1:p.Ser485Cys
ENST00000494864.1:c.341C>G ENSP00000479876.1:p.Ser114Cys
ENST00000610745.4:c.1454C>G ENSP00000478561.1:p.Ser485Cys
ENST00000614273.1:c.1454C>G ENSP00000483678.1:p.Ser485Cys
NM_000104.3:c.1454C>G NP_000095.2:p.Ser485Cys
NM_000104.4:c.1454C>G MANE Select NP_000095.2:p.Ser485Cys
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