Canonical Allele Identifier: CA129038
Gene: CYP1B1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.38075234G>A
GRCh37 chr2:g.38302377G>A
Revel Score:
ENST00000260630 0.910
ENST00000407341 0.910
gnomAD v2:
2:38302377 G / A
gnomAD v3:
2:38075234 G / A
gnomAD v4:
chr2-38075234-G-A
Joint Max Group AF 0.00027292 (NFE)
Genomes Max Group AF 0.00024278 (NFE)
Exomes Max Group AF 0.00026893 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075234G>A , CM000664.2:g.38075234G>A GRCh38
NC_000002.11:g.38302377G>A , CM000664.1:g.38302377G>A GRCh37
NC_000002.10:g.38155881G>A NCBI36
NG_008386.2:g.5868C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.155C>T ENSP00000478839.2:p.Pro52Leu
ENST00000610745.5:c.155C>T MANE Select ENSP00000478561.1:p.Pro52Leu
ENST00000490576.1:c.155C>T ENSP00000478839.1:p.Pro52Leu
ENST00000494864.1:c.-70-3924C>T ENSP00000479876.1:n.-70-3924C>T
ENST00000610745.4:c.155C>T ENSP00000478561.1:p.Pro52Leu
ENST00000613082.1:n.375+546C>T
ENST00000614273.1:c.155C>T ENSP00000483678.1:p.Pro52Leu
NM_000104.3:c.155C>T NP_000095.2:p.Pro52Leu
NM_000104.4:c.155C>T MANE Select NP_000095.2:p.Pro52Leu
Search 100 bp 5'
Search 100 bp 3'