Canonical Allele Identifier: CA346329763
Gene: CYP1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075211T>C , CM000664.2:g.38075211T>C GRCh38
NC_000002.11:g.38302354T>C , CM000664.1:g.38302354T>C GRCh37
NC_000002.10:g.38155858T>C NCBI36
NG_008386.2:g.5891A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.178A>G ENSP00000478839.2:p.Ile60Val
ENST00000610745.5:c.178A>G MANE Select ENSP00000478561.1:p.Ile60Val
ENST00000490576.1:c.178A>G ENSP00000478839.1:p.Ile60Val
ENST00000494864.1:c.-70-3901A>G ENSP00000479876.1:n.-70-3901A>G
ENST00000610745.4:c.178A>G ENSP00000478561.1:p.Ile60Val
ENST00000613082.1:n.375+569A>G
ENST00000614273.1:c.178A>G ENSP00000483678.1:p.Ile60Val
NM_000104.3:c.178A>G NP_000095.2:p.Ile60Val
NM_000104.4:c.178A>G MANE Select NP_000095.2:p.Ile60Val