Canonical Allele Identifier: CA425864542
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38071112-A-T
MyVariant Identifiers: chr2:g.38298255A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071112A>T , CM000664.2:g.38071112A>T GRCh38
NC_000002.11:g.38298255A>T , CM000664.1:g.38298255A>T GRCh37
NC_000002.10:g.38151759A>T NCBI36
NG_008386.2:g.9990T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1242T>A ENSP00000478839.2:p.Ile414=
ENST00000610745.5:c.1242T>A MANE Select ENSP00000478561.1:p.Ile414=
ENST00000492443.1:n.620T>A
ENST00000494864.1:c.129T>A ENSP00000479876.1:p.Ile43=
ENST00000610745.4:c.1242T>A ENSP00000478561.1:p.Ile414=
ENST00000614273.1:c.1242T>A ENSP00000483678.1:p.Ile414=
NM_000104.3:c.1242T>A NP_000095.2:p.Ile414=
NM_000104.4:c.1242T>A MANE Select NP_000095.2:p.Ile414=