Canonical Allele Identifier: CA346327642
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38071149-G-T
MyVariant Identifiers: chr2:g.38298292G>T (hg19) chr2:g.38071149G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071149G>T , CM000664.2:g.38071149G>T GRCh38
NC_000002.11:g.38298292G>T , CM000664.1:g.38298292G>T GRCh37
NC_000002.10:g.38151796G>T NCBI36
NG_008386.2:g.9953C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1205C>A ENSP00000478839.2:p.Ala402Asp
ENST00000610745.5:c.1205C>A MANE Select ENSP00000478561.1:p.Ala402Asp
ENST00000492443.1:n.583C>A
ENST00000494864.1:c.92C>A ENSP00000479876.1:p.Ala31Asp
ENST00000610745.4:c.1205C>A ENSP00000478561.1:p.Ala402Asp
ENST00000614273.1:c.1205C>A ENSP00000483678.1:p.Ala402Asp
NM_000104.3:c.1205C>A NP_000095.2:p.Ala402Asp
NM_000104.4:c.1205C>A MANE Select NP_000095.2:p.Ala402Asp
Search 100 bp 5'
Search 100 bp 3'