Canonical Allele Identifier: CA346329281
Gene: CYP1B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.38302108T>G (hg19) chr2:g.38074965T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074965T>G , CM000664.2:g.38074965T>G GRCh38
NC_000002.11:g.38302108T>G , CM000664.1:g.38302108T>G GRCh37
NC_000002.10:g.38155612T>G NCBI36
NG_008386.2:g.6137A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.424A>C ENSP00000478839.2:p.Lys142Gln
ENST00000610745.5:c.424A>C MANE Select ENSP00000478561.1:p.Lys142Gln
ENST00000490576.1:c.424A>C ENSP00000478839.1:p.Lys142Gln
ENST00000494864.1:c.-70-3655A>C ENSP00000479876.1:n.-70-3655A>C
ENST00000610745.4:c.424A>C ENSP00000478561.1:p.Lys142Gln
ENST00000613082.1:n.376-557A>C
ENST00000614273.1:c.424A>C ENSP00000483678.1:p.Lys142Gln
NM_000104.3:c.424A>C NP_000095.2:p.Lys142Gln
NM_000104.4:c.424A>C MANE Select NP_000095.2:p.Lys142Gln
Search 100 bp 5'
Search 100 bp 3'