Canonical Allele Identifier: CA346327466
Gene: CYP1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071066C>T , CM000664.2:g.38071066C>T GRCh38
NC_000002.11:g.38298209C>T , CM000664.1:g.38298209C>T GRCh37
NC_000002.10:g.38151713C>T NCBI36
NG_008386.2:g.10036G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1288G>A ENSP00000478839.2:p.Asp430Asn
ENST00000610745.5:c.1288G>A MANE Select ENSP00000478561.1:p.Asp430Asn
ENST00000492443.1:n.666G>A
ENST00000494864.1:c.175G>A ENSP00000479876.1:p.Asp59Asn
ENST00000610745.4:c.1288G>A ENSP00000478561.1:p.Asp430Asn
ENST00000614273.1:c.1288G>A ENSP00000483678.1:p.Asp430Asn
NM_000104.3:c.1288G>A NP_000095.2:p.Asp430Asn
NM_000104.4:c.1288G>A MANE Select NP_000095.2:p.Asp430Asn