Canonical Allele Identifier: CA532236927

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1190174822
• gnomAD v2: 2-38302706-GGAGAA-G
• gnomAD v3: 2-38075563-GGAGAA-G
• gnomAD v4: 2-38075563-GGAGAA-G
• MyVariant Identifiers: chr2:g.38302707_38302711del (hg19) ; chr2:g.38075564_38075568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075570_38075574del , CM000664.2:g.38075570_38075574del	GRCh38
NC_000002.11:g.38302713_38302717del , CM000664.1:g.38302713_38302717del	GRCh37
NC_000002.10:g.38156217_38156221del	NCBI36
NG_008386.2:g.5534_5538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-179_-1-175del	ENSP00000478839.2:n.-1-179_-1-175del
ENST00000610745.5:c.-1-179_-1-175del MANE Select	ENSP00000478561.1:n.-1-179_-1-175del
ENST00000490576.1:c.-1-179_-1-175del	ENSP00000478839.1:n.-1-179_-1-175del
ENST00000494864.1:c.-70-4258_-70-4254del	ENSP00000479876.1:n.-70-4258_-70-4254del
ENST00000610745.4:c.-1-179_-1-175del	ENSP00000478561.1:n.-1-179_-1-175del
ENST00000613082.1:n.375+212_375+216del
ENST00000614273.1:c.-1-179_-1-175del	ENSP00000483678.1:n.-1-179_-1-175del
NM_000104.3:c.-1-179_-1-175del	NP_000095.2:n.-1-179_-1-175del
XM_011533236.1:c.184_188del	XP_011531538.1:p.Arg62GlyfsTer8
NM_000104.4:c.-1-179_-1-175del MANE Select	NP_000095.2:n.-1-179_-1-175del