Canonical Allele Identifier: CA1245628442
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1682522661
gnomAD v4: 2-38075513-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075513T>C , CM000664.2:g.38075513T>C GRCh38
NC_000002.11:g.38302656T>C , CM000664.1:g.38302656T>C GRCh37
NC_000002.10:g.38156160T>C NCBI36
NG_008386.2:g.5589A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-124A>G ENSP00000478839.2:n.-1-124A>G
ENST00000610745.5:c.-1-124A>G MANE Select ENSP00000478561.1:n.-1-124A>G
ENST00000490576.1:c.-1-124A>G ENSP00000478839.1:n.-1-124A>G
ENST00000494864.1:c.-70-4203A>G ENSP00000479876.1:n.-70-4203A>G
ENST00000610745.4:c.-1-124A>G ENSP00000478561.1:n.-1-124A>G
ENST00000613082.1:n.375+267A>G
ENST00000614273.1:c.-1-124A>G ENSP00000483678.1:n.-1-124A>G
NM_000104.3:c.-1-124A>G NP_000095.2:n.-1-124A>G
XM_011533236.1:c.127T>C XP_011531538.1:p.Trp43Arg
NM_000104.4:c.-1-124A>G MANE Select NP_000095.2:n.-1-124A>G