Canonical Allele Identifier: CA45512481

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1007517629
• gnomAD v2: 2-38302738-G-GTAA
• gnomAD v3: 2-38075595-G-GTAA
• gnomAD v4: 2-38075595-G-GTAA
• MyVariant Identifiers: chr2:g.38302738_38302739insTAA (hg19) ; chr2:g.38075595_38075596insTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075596_38075598dup , CM000664.2:g.38075596_38075598dup	GRCh38
NC_000002.11:g.38302739_38302741dup , CM000664.1:g.38302739_38302741dup	GRCh37
NC_000002.10:g.38156243_38156245dup	NCBI36
NG_008386.2:g.5504_5506dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-209_-1-207dup	ENSP00000478839.2:n.-1-209_-1-207dup
ENST00000610745.5:c.-2+182_-2+184dup MANE Select	ENSP00000478561.1:n.-2+182_-2+184dup
ENST00000490576.1:c.-1-209_-1-207dup	ENSP00000478839.1:n.-1-209_-1-207dup
ENST00000494864.1:c.-70-4288_-70-4286dup	ENSP00000479876.1:n.-70-4288_-70-4286dup
ENST00000610745.4:c.-2+182_-2+184dup	ENSP00000478561.1:n.-2+182_-2+184dup
ENST00000613082.1:n.375+182_375+184dup
ENST00000614273.1:c.-2+178_-2+180dup	ENSP00000483678.1:n.-2+178_-2+180dup
NM_000104.3:c.-2+182_-2+184dup	NP_000095.2:n.-2+182_-2+184dup
XM_011533236.1:c.210_212dup	XP_011531538.1:p.Asn71_Pro72insAsn
NM_000104.4:c.-2+182_-2+184dup MANE Select	NP_000095.2:n.-2+182_-2+184dup