Canonical Allele Identifier: CA346327791
Gene: CYP1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071223G>C , CM000664.2:g.38071223G>C GRCh38
NC_000002.11:g.38298366G>C , CM000664.1:g.38298366G>C GRCh37
NC_000002.10:g.38151870G>C NCBI36
NG_008386.2:g.9879C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1131C>G ENSP00000478839.2:p.Asn377Lys
ENST00000610745.5:c.1131C>G MANE Select ENSP00000478561.1:p.Asn377Lys
ENST00000492443.1:n.509C>G
ENST00000494864.1:c.18C>G ENSP00000479876.1:p.Asn6Lys
ENST00000610745.4:c.1131C>G ENSP00000478561.1:p.Asn377Lys
ENST00000613082.1:n.526C>G
ENST00000614273.1:c.1131C>G ENSP00000483678.1:p.Asn377Lys
NM_000104.3:c.1131C>G NP_000095.2:p.Asn377Lys
NM_000104.4:c.1131C>G MANE Select NP_000095.2:p.Asn377Lys