Canonical Allele Identifier: CA1029495226
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1682524232
gnomAD v3: 2-38075606-C-T
gnomAD v4: 2-38075606-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075606C>T , CM000664.2:g.38075606C>T GRCh38
NC_000002.11:g.38302749C>T , CM000664.1:g.38302749C>T GRCh37
NC_000002.10:g.38156253C>T NCBI36
NG_008386.2:g.5496G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-217G>A ENSP00000478839.2:n.-1-217G>A
ENST00000610745.5:c.-2+174G>A MANE Select ENSP00000478561.1:n.-2+174G>A
ENST00000490576.1:c.-1-217G>A ENSP00000478839.1:n.-1-217G>A
ENST00000494864.1:c.-70-4296G>A ENSP00000479876.1:n.-70-4296G>A
ENST00000610745.4:c.-2+174G>A ENSP00000478561.1:n.-2+174G>A
ENST00000613082.1:n.375+174G>A
ENST00000614273.1:c.-2+170G>A ENSP00000483678.1:n.-2+170G>A
NM_000104.3:c.-2+174G>A NP_000095.2:n.-2+174G>A
XM_011533236.1:c.220C>T XP_011531538.1:p.Pro74Ser
NM_000104.4:c.-2+174G>A MANE Select NP_000095.2:n.-2+174G>A
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