Canonical Allele Identifier: CA1029495217

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1682522944
• gnomAD v3: 2-38075531-C-CA
• gnomAD v4: 2-38075531-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075531_38075532insA , CM000664.2:g.38075531_38075532insA	GRCh38
NC_000002.11:g.38302674_38302675insA , CM000664.1:g.38302674_38302675insA	GRCh37
NC_000002.10:g.38156178_38156179insA	NCBI36
NG_008386.2:g.5570_5571insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-143_-1-142insT	ENSP00000478839.2:n.-1-143_-1-142insT
ENST00000610745.5:c.-1-143_-1-142insT MANE Select	ENSP00000478561.1:n.-1-143_-1-142insT
ENST00000490576.1:c.-1-143_-1-142insT	ENSP00000478839.1:n.-1-143_-1-142insT
ENST00000494864.1:c.-70-4222_-70-4221insT	ENSP00000479876.1:n.-70-4222_-70-4221insT
ENST00000610745.4:c.-1-143_-1-142insT	ENSP00000478561.1:n.-1-143_-1-142insT
ENST00000613082.1:n.375+248_375+249insT
ENST00000614273.1:c.-1-143_-1-142insT	ENSP00000483678.1:n.-1-143_-1-142insT
NM_000104.3:c.-1-143_-1-142insT	NP_000095.2:n.-1-143_-1-142insT
XM_011533236.1:c.145_146insA	XP_011531538.1:p.Arg49GlnfsTer23
NM_000104.4:c.-1-143_-1-142insT MANE Select	NP_000095.2:n.-1-143_-1-142insT