Canonical Allele Identifier: CA346327450
Gene: CYP1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071057T>G , CM000664.2:g.38071057T>G GRCh38
NC_000002.11:g.38298200T>G , CM000664.1:g.38298200T>G GRCh37
NC_000002.10:g.38151704T>G NCBI36
NG_008386.2:g.10045A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1297A>C ENSP00000478839.2:p.Lys433Gln
ENST00000610745.5:c.1297A>C MANE Select ENSP00000478561.1:p.Lys433Gln
ENST00000492443.1:n.675A>C
ENST00000494864.1:c.184A>C ENSP00000479876.1:p.Lys62Gln
ENST00000610745.4:c.1297A>C ENSP00000478561.1:p.Lys433Gln
ENST00000614273.1:c.1297A>C ENSP00000483678.1:p.Lys433Gln
NM_000104.3:c.1297A>C NP_000095.2:p.Lys433Gln
NM_000104.4:c.1297A>C MANE Select NP_000095.2:p.Lys433Gln