Canonical Allele Identifier: CA2658667831
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075495-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075495A>G , CM000664.2:g.38075495A>G GRCh38
NC_000002.11:g.38302638A>G , CM000664.1:g.38302638A>G GRCh37
NC_000002.10:g.38156142A>G NCBI36
NG_008386.2:g.5607T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-106T>C ENSP00000478839.2:n.-1-106T>C
ENST00000610745.5:c.-1-106T>C MANE Select ENSP00000478561.1:n.-1-106T>C
ENST00000490576.1:c.-1-106T>C ENSP00000478839.1:n.-1-106T>C
ENST00000494864.1:c.-70-4185T>C ENSP00000479876.1:n.-70-4185T>C
ENST00000610745.4:c.-1-106T>C ENSP00000478561.1:n.-1-106T>C
ENST00000613082.1:n.375+285T>C
ENST00000614273.1:c.-1-106T>C ENSP00000483678.1:n.-1-106T>C
NM_000104.3:c.-1-106T>C NP_000095.2:n.-1-106T>C
XM_011533236.1:c.109A>G XP_011531538.1:p.Arg37Gly
NM_000104.4:c.-1-106T>C MANE Select NP_000095.2:n.-1-106T>C
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