Canonical Allele Identifier: CA346327341
Gene: CYP1B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.38298145A>T (hg19) chr2:g.38071002A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071002A>T , CM000664.2:g.38071002A>T GRCh38
NC_000002.11:g.38298145A>T , CM000664.1:g.38298145A>T GRCh37
NC_000002.10:g.38151649A>T NCBI36
NG_008386.2:g.10100T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1352T>A ENSP00000478839.2:p.Leu451His
ENST00000610745.5:c.1352T>A MANE Select ENSP00000478561.1:p.Leu451His
ENST00000492443.1:n.730T>A
ENST00000494864.1:c.239T>A ENSP00000479876.1:p.Leu80His
ENST00000610745.4:c.1352T>A ENSP00000478561.1:p.Leu451His
ENST00000614273.1:c.1352T>A ENSP00000483678.1:p.Leu451His
NM_000104.3:c.1352T>A NP_000095.2:p.Leu451His
NM_000104.4:c.1352T>A MANE Select NP_000095.2:p.Leu451His
Search 100 bp 5'
Search 100 bp 3'