Canonical Allele Identifier: CA1029495222
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1682523735
gnomAD v3: 2-38075574-G-C
gnomAD v4: 2-38075574-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075574G>C , CM000664.2:g.38075574G>C GRCh38
NC_000002.11:g.38302717G>C , CM000664.1:g.38302717G>C GRCh37
NC_000002.10:g.38156221G>C NCBI36
NG_008386.2:g.5528C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-185C>G ENSP00000478839.2:n.-1-185C>G
ENST00000610745.5:c.-1-185C>G MANE Select ENSP00000478561.1:n.-1-185C>G
ENST00000490576.1:c.-1-185C>G ENSP00000478839.1:n.-1-185C>G
ENST00000494864.1:c.-70-4264C>G ENSP00000479876.1:n.-70-4264C>G
ENST00000610745.4:c.-1-185C>G ENSP00000478561.1:n.-1-185C>G
ENST00000613082.1:n.375+206C>G
ENST00000614273.1:c.-1-185C>G ENSP00000483678.1:n.-1-185C>G
NM_000104.3:c.-1-185C>G NP_000095.2:n.-1-185C>G
XM_011533236.1:c.188G>C XP_011531538.1:p.Arg63Thr
NM_000104.4:c.-1-185C>G MANE Select NP_000095.2:n.-1-185C>G