Canonical Allele Identifier: CA1620104
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs562378505
ExAC: 2:38302392 A / G
gnomAD v2: 2-38302392-A-G
gnomAD v3: 2-38075249-A-G
gnomAD v4: 2-38075249-A-G
MyVariant Identifiers: chr2:g.38302392A>G (hg19) chr2:g.38075249A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075249A>G , CM000664.2:g.38075249A>G GRCh38
NC_000002.11:g.38302392A>G , CM000664.1:g.38302392A>G GRCh37
NC_000002.10:g.38155896A>G NCBI36
NG_008386.2:g.5853T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.140T>C ENSP00000478839.2:p.Leu47Pro
ENST00000610745.5:c.140T>C MANE Select ENSP00000478561.1:p.Leu47Pro
ENST00000490576.1:c.140T>C ENSP00000478839.1:p.Leu47Pro
ENST00000494864.1:c.-70-3939T>C ENSP00000479876.1:n.-70-3939T>C
ENST00000610745.4:c.140T>C ENSP00000478561.1:p.Leu47Pro
ENST00000613082.1:n.375+531T>C
ENST00000614273.1:c.140T>C ENSP00000483678.1:p.Leu47Pro
NM_000104.3:c.140T>C NP_000095.2:p.Leu47Pro
NM_000104.4:c.140T>C MANE Select NP_000095.2:p.Leu47Pro
Search 100 bp 5'
Search 100 bp 3'