Canonical Allele Identifier: CA346327057
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1682414448
gnomAD v3: 2-38070870-G-C
gnomAD v4: 2-38070870-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070870G>C , CM000664.2:g.38070870G>C GRCh38
NC_000002.11:g.38298013G>C , CM000664.1:g.38298013G>C GRCh37
NC_000002.10:g.38151517G>C NCBI36
NG_008386.2:g.10232C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1484C>G ENSP00000478839.2:p.Ala495Gly
ENST00000610745.5:c.1484C>G MANE Select ENSP00000478561.1:p.Ala495Gly
ENST00000494864.1:c.371C>G ENSP00000479876.1:p.Ala124Gly
ENST00000610745.4:c.1484C>G ENSP00000478561.1:p.Ala495Gly
ENST00000614273.1:c.1484C>G ENSP00000483678.1:p.Ala495Gly
NM_000104.3:c.1484C>G NP_000095.2:p.Ala495Gly
NM_000104.4:c.1484C>G MANE Select NP_000095.2:p.Ala495Gly