Canonical Allele Identifier: CA1029495220
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1682523345
gnomAD v3: 2-38075549-A-AC
gnomAD v4: 2-38075549-A-AC
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075552dup , CM000664.2:g.38075552dup GRCh38
NC_000002.11:g.38302695dup , CM000664.1:g.38302695dup GRCh37
NC_000002.10:g.38156199dup NCBI36
NG_008386.2:g.5552dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-161dup ENSP00000478839.2:n.-1-161dup
ENST00000610745.5:c.-1-161dup MANE Select ENSP00000478561.1:n.-1-161dup
ENST00000490576.1:c.-1-161dup ENSP00000478839.1:n.-1-161dup
ENST00000494864.1:c.-70-4240dup ENSP00000479876.1:n.-70-4240dup
ENST00000610745.4:c.-1-161dup ENSP00000478561.1:n.-1-161dup
ENST00000613082.1:n.375+230dup
ENST00000614273.1:c.-1-161dup ENSP00000483678.1:n.-1-161dup
NM_000104.3:c.-1-161dup NP_000095.2:n.-1-161dup
XM_011533236.1:c.166dup XP_011531538.1:p.His56ProfsTer16
NM_000104.4:c.-1-161dup MANE Select NP_000095.2:n.-1-161dup
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