Canonical Allele Identifier: CA1620033
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs752927055
ExAC: 2:38302081 T / A
gnomAD v2: 2-38302081-T-A
gnomAD v4: 2-38074938-T-A
MyVariant Identifiers: chr2:g.38302081T>A (hg19) chr2:g.38074938T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074938T>A , CM000664.2:g.38074938T>A GRCh38
NC_000002.11:g.38302081T>A , CM000664.1:g.38302081T>A GRCh37
NC_000002.10:g.38155585T>A NCBI36
NG_008386.2:g.6164A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.451A>T ENSP00000478839.2:p.Met151Leu
ENST00000610745.5:c.451A>T MANE Select ENSP00000478561.1:p.Met151Leu
ENST00000494864.1:c.-70-3628A>T ENSP00000479876.1:n.-70-3628A>T
ENST00000610745.4:c.451A>T ENSP00000478561.1:p.Met151Leu
ENST00000613082.1:n.376-530A>T
ENST00000614273.1:c.451A>T ENSP00000483678.1:p.Met151Leu
NM_000104.3:c.451A>T NP_000095.2:p.Met151Leu
NM_000104.4:c.451A>T MANE Select NP_000095.2:p.Met151Leu
Search 100 bp 5'
Search 100 bp 3'