Canonical Allele Identifier: CA768426471

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1395491208
• gnomAD v3: 2-38075549-A-G
• gnomAD v4: 2-38075549-A-G
• MyVariant Identifiers: chr2:g.38302692A>G (hg19) ; chr2:g.38075549A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075549A>G , CM000664.2:g.38075549A>G	GRCh38
NC_000002.11:g.38302692A>G , CM000664.1:g.38302692A>G	GRCh37
NC_000002.10:g.38156196A>G	NCBI36
NG_008386.2:g.5553T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-160T>C	ENSP00000478839.2:n.-1-160T>C
ENST00000610745.5:c.-1-160T>C MANE Select	ENSP00000478561.1:n.-1-160T>C
ENST00000490576.1:c.-1-160T>C	ENSP00000478839.1:n.-1-160T>C
ENST00000494864.1:c.-70-4239T>C	ENSP00000479876.1:n.-70-4239T>C
ENST00000610745.4:c.-1-160T>C	ENSP00000478561.1:n.-1-160T>C
ENST00000613082.1:n.375+231T>C
ENST00000614273.1:c.-1-160T>C	ENSP00000483678.1:n.-1-160T>C
NM_000104.3:c.-1-160T>C	NP_000095.2:n.-1-160T>C
XM_011533236.1:c.163A>G	XP_011531538.1:p.Thr55Ala
NM_000104.4:c.-1-160T>C MANE Select	NP_000095.2:n.-1-160T>C