Canonical Allele Identifier: CA425864424
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38070866-G-A
MyVariant Identifiers: chr2:g.38298009G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070866G>A , CM000664.2:g.38070866G>A GRCh38
NC_000002.11:g.38298009G>A , CM000664.1:g.38298009G>A GRCh37
NC_000002.10:g.38151513G>A NCBI36
NG_008386.2:g.10236C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1488C>T ENSP00000478839.2:p.Asn496=
ENST00000610745.5:c.1488C>T MANE Select ENSP00000478561.1:p.Asn496=
ENST00000494864.1:c.375C>T ENSP00000479876.1:p.Asn125=
ENST00000610745.4:c.1488C>T ENSP00000478561.1:p.Asn496=
ENST00000614273.1:c.1488C>T ENSP00000483678.1:p.Asn496=
NM_000104.3:c.1488C>T NP_000095.2:p.Asn496=
NM_000104.4:c.1488C>T MANE Select NP_000095.2:p.Asn496=
Search 100 bp 5'
Search 100 bp 3'