Canonical Allele Identifier: CA2749546763
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075590T>C , CM000664.2:g.38075590T>C GRCh38
NC_000002.11:g.38302733T>C , CM000664.1:g.38302733T>C GRCh37
NC_000002.10:g.38156237T>C NCBI36
NG_008386.2:g.5512A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-201A>G ENSP00000478839.2:n.-1-201A>G
ENST00000610745.5:c.-2+190A>G MANE Select ENSP00000478561.1:n.-2+190A>G
ENST00000490576.1:c.-1-201A>G ENSP00000478839.1:n.-1-201A>G
ENST00000494864.1:c.-70-4280A>G ENSP00000479876.1:n.-70-4280A>G
ENST00000610745.4:c.-2+190A>G ENSP00000478561.1:n.-2+190A>G
ENST00000613082.1:n.375+190A>G
ENST00000614273.1:c.-2+186A>G ENSP00000483678.1:n.-2+186A>G
NM_000104.3:c.-2+190A>G NP_000095.2:n.-2+190A>G
XM_011533236.1:c.204T>C XP_011531538.1:p.Pro68=
NM_000104.4:c.-2+190A>G MANE Select NP_000095.2:n.-2+190A>G
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