Canonical Allele Identifier: CA346327369
Gene: CYP1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071015C>T , CM000664.2:g.38071015C>T GRCh38
NC_000002.11:g.38298158C>T , CM000664.1:g.38298158C>T GRCh37
NC_000002.10:g.38151662C>T NCBI36
NG_008386.2:g.10087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1339G>A ENSP00000478839.2:p.Asp447Asn
ENST00000610745.5:c.1339G>A MANE Select ENSP00000478561.1:p.Asp447Asn
ENST00000492443.1:n.717G>A
ENST00000494864.1:c.226G>A ENSP00000479876.1:p.Asp76Asn
ENST00000610745.4:c.1339G>A ENSP00000478561.1:p.Asp447Asn
ENST00000614273.1:c.1339G>A ENSP00000483678.1:p.Asp447Asn
NM_000104.3:c.1339G>A NP_000095.2:p.Asp447Asn
NM_000104.4:c.1339G>A MANE Select NP_000095.2:p.Asp447Asn