Canonical Allele Identifier: CA1620136
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1203967
ClinVar RCV Id: RCV001570198 RCV002509687
dbSNP Id: rs757520959
ExAC: 2:38302531 T / C
gnomAD v2: 2-38302531-T-C
gnomAD v3: 2-38075388-T-C
gnomAD v4: 2-38075388-T-C
MyVariant Identifiers: chr2:g.38302531T>C (hg19) chr2:g.38075388T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075388T>C , CM000664.2:g.38075388T>C GRCh38
NC_000002.11:g.38302531T>C , CM000664.1:g.38302531T>C GRCh37
NC_000002.10:g.38156035T>C NCBI36
NG_008386.2:g.5714A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1A>G ENSP00000478839.2:p.Met1Val
ENST00000610745.5:c.1A>G MANE Select ENSP00000478561.1:p.Met1Val
ENST00000490576.1:c.1A>G ENSP00000478839.1:p.Met1Val
ENST00000494864.1:c.-70-4078A>G ENSP00000479876.1:n.-70-4078A>G
ENST00000610745.4:c.1A>G ENSP00000478561.1:p.Met1Val
ENST00000613082.1:n.375+392A>G
ENST00000614273.1:c.1A>G ENSP00000483678.1:p.Met1Val
NM_000104.3:c.1A>G NP_000095.2:p.Met1Val
XM_011533236.1:c.2T>C XP_011531538.1:p.Met1Thr
NM_000104.4:c.1A>G MANE Select NP_000095.2:p.Met1Val
Search 100 bp 5'
Search 100 bp 3'