Canonical Allele Identifier: CA346329489
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075066-A-G
MyVariant Identifiers: chr2:g.38302209A>G (hg19) chr2:g.38075066A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075066A>G , CM000664.2:g.38075066A>G GRCh38
NC_000002.11:g.38302209A>G , CM000664.1:g.38302209A>G GRCh37
NC_000002.10:g.38155713A>G NCBI36
NG_008386.2:g.6036T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.323T>C ENSP00000478839.2:p.Val108Ala
ENST00000610745.5:c.323T>C MANE Select ENSP00000478561.1:p.Val108Ala
ENST00000490576.1:c.323T>C ENSP00000478839.1:p.Val108Ala
ENST00000494864.1:c.-70-3756T>C ENSP00000479876.1:n.-70-3756T>C
ENST00000610745.4:c.323T>C ENSP00000478561.1:p.Val108Ala
ENST00000613082.1:n.376-658T>C
ENST00000614273.1:c.323T>C ENSP00000483678.1:p.Val108Ala
NM_000104.3:c.323T>C NP_000095.2:p.Val108Ala
NM_000104.4:c.323T>C MANE Select NP_000095.2:p.Val108Ala
Search 100 bp 5'
Search 100 bp 3'