Canonical Allele Identifier: CA425690762
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38071208-C-G
MyVariant Identifiers: chr2:g.38298351C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071208C>G , CM000664.2:g.38071208C>G GRCh38
NC_000002.11:g.38298351C>G , CM000664.1:g.38298351C>G GRCh37
NC_000002.10:g.38151855C>G NCBI36
NG_008386.2:g.9894G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1146G>C ENSP00000478839.2:p.Leu382=
ENST00000610745.5:c.1146G>C MANE Select ENSP00000478561.1:p.Leu382=
ENST00000492443.1:n.524G>C
ENST00000494864.1:c.33G>C ENSP00000479876.1:p.Leu11=
ENST00000610745.4:c.1146G>C ENSP00000478561.1:p.Leu382=
ENST00000613082.1:n.541G>C
ENST00000614273.1:c.1146G>C ENSP00000483678.1:p.Leu382=
NM_000104.3:c.1146G>C NP_000095.2:p.Leu382=
NM_000104.4:c.1146G>C MANE Select NP_000095.2:p.Leu382=
Search 100 bp 5'
Search 100 bp 3'