Canonical Allele Identifier: CA2658667760
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075421-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075421A>G , CM000664.2:g.38075421A>G GRCh38
NC_000002.11:g.38302564A>G , CM000664.1:g.38302564A>G GRCh37
NC_000002.10:g.38156068A>G NCBI36
NG_008386.2:g.5681T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-32T>C ENSP00000478839.2:n.-1-32T>C
ENST00000610745.5:c.-1-32T>C MANE Select ENSP00000478561.1:n.-1-32T>C
ENST00000490576.1:c.-1-32T>C ENSP00000478839.1:n.-1-32T>C
ENST00000494864.1:c.-70-4111T>C ENSP00000479876.1:n.-70-4111T>C
ENST00000610745.4:c.-1-32T>C ENSP00000478561.1:n.-1-32T>C
ENST00000613082.1:n.375+359T>C
ENST00000614273.1:c.-1-32T>C ENSP00000483678.1:n.-1-32T>C
NM_000104.3:c.-1-32T>C NP_000095.2:n.-1-32T>C
XM_011533236.1:c.35A>G XP_011531538.1:p.Gln12Arg
NM_000104.4:c.-1-32T>C MANE Select NP_000095.2:n.-1-32T>C