Canonical Allele Identifier: CA532236933
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1199876416
gnomAD v2: 2-38302284-T-TC
gnomAD v4: 2-38075141-T-TC
MyVariant Identifiers: chr2:g.38302284_38302285insC (hg19) chr2:g.38075141_38075142insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075142dup , CM000664.2:g.38075142dup GRCh38
NC_000002.11:g.38302285dup , CM000664.1:g.38302285dup GRCh37
NC_000002.10:g.38155789dup NCBI36
NG_008386.2:g.5960dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.247dup ENSP00000478839.2:p.Asp83GlyfsTer?
ENST00000610745.5:c.247dup MANE Select ENSP00000478561.1:p.Asp83GlyfsTer?
ENST00000490576.1:c.247dup ENSP00000478839.1:p.Asp83GlyfsTer?
ENST00000494864.1:c.-70-3832dup ENSP00000479876.1:n.-70-3832dup
ENST00000610745.4:c.247dup ENSP00000478561.1:p.Asp83GlyfsTer?
ENST00000613082.1:n.375+638dup
ENST00000614273.1:c.247dup ENSP00000483678.1:p.Asp83GlyfsTer?
NM_000104.3:c.247dup NP_000095.2:p.Asp83GlyfsTer?
NM_000104.4:c.247dup MANE Select NP_000095.2:p.Asp83GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'