Canonical Allele Identifier: CA1245628422
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1682521684
gnomAD v4: 2-38075482-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075482C>G , CM000664.2:g.38075482C>G GRCh38
NC_000002.11:g.38302625C>G , CM000664.1:g.38302625C>G GRCh37
NC_000002.10:g.38156129C>G NCBI36
NG_008386.2:g.5620G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-93G>C ENSP00000478839.2:n.-1-93G>C
ENST00000610745.5:c.-1-93G>C MANE Select ENSP00000478561.1:n.-1-93G>C
ENST00000490576.1:c.-1-93G>C ENSP00000478839.1:n.-1-93G>C
ENST00000494864.1:c.-70-4172G>C ENSP00000479876.1:n.-70-4172G>C
ENST00000610745.4:c.-1-93G>C ENSP00000478561.1:n.-1-93G>C
ENST00000613082.1:n.375+298G>C
ENST00000614273.1:c.-1-93G>C ENSP00000483678.1:n.-1-93G>C
NM_000104.3:c.-1-93G>C NP_000095.2:n.-1-93G>C
XM_011533236.1:c.96C>G XP_011531538.1:p.Cys32Trp
NM_000104.4:c.-1-93G>C MANE Select NP_000095.2:n.-1-93G>C
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