Canonical Allele Identifier: CA346326807
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 965575
ClinVar RCV Id: RCV001240062
dbSNP Id: rs1216032234
gnomAD v2: 2-38297897-G-T
gnomAD v4: 2-38070754-G-T
MyVariant Identifiers: chr2:g.38297897G>T (hg19) chr2:g.38070754G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070754G>T , CM000664.2:g.38070754G>T GRCh38
NC_000002.11:g.38297897G>T , CM000664.1:g.38297897G>T GRCh37
NC_000002.10:g.38151401G>T NCBI36
NG_008386.2:g.10348C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1600C>A ENSP00000478839.2:p.Gln534Lys
ENST00000610745.5:c.1600C>A MANE Select ENSP00000478561.1:p.Gln534Lys
ENST00000494864.1:c.487C>A ENSP00000479876.1:p.Gln163Lys
ENST00000610745.4:c.1600C>A ENSP00000478561.1:p.Gln534Lys
ENST00000614273.1:c.1600C>A ENSP00000483678.1:p.Gln534Lys
NM_000104.3:c.1600C>A NP_000095.2:p.Gln534Lys
NM_000104.4:c.1600C>A MANE Select NP_000095.2:p.Gln534Lys
Search 100 bp 5'
Search 100 bp 3'