Canonical Allele Identifier: CA1620048

Gene: CYP1B1

Linked Data

• dbSNP Id: rs753591839
• ExAC: 2:38302168 AGGCGAAGGCCGGCCGGTC / A
• gnomAD v2: 2-38302168-AGGCGAAGGCCGGCCGGTC-A
• gnomAD v3: 2-38075025-AGGCGAAGGCCGGCCGGTC-A
• gnomAD v4: 2-38075025-AGGCGAAGGCCGGCCGGTC-A
• MyVariant Identifiers: chr2:g.38302169_38302186del (hg19) ; chr2:g.38075026_38075043del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075037_38075054del , CM000664.2:g.38075037_38075054del	GRCh38
NC_000002.11:g.38302180_38302197del , CM000664.1:g.38302180_38302197del	GRCh37
NC_000002.10:g.38155684_38155701del	NCBI36
NG_008386.2:g.6059_6076del

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.346_363del	ENSP00000478839.2:p.Asp116_Ala121del
ENST00000610745.5:c.346_363del MANE Select	ENSP00000478561.1:p.Asp116_Ala121del
ENST00000490576.1:c.346_363del	ENSP00000478839.1:p.Asp116_Ala121del
ENST00000494864.1:c.-70-3733_-70-3716del	ENSP00000479876.1:n.-70-3733_-70-3716del
ENST00000610745.4:c.346_363del	ENSP00000478561.1:p.Asp116_Ala121del
ENST00000613082.1:n.376-635_376-618del
ENST00000614273.1:c.346_363del	ENSP00000483678.1:p.Asp116_Ala121del
NM_000104.3:c.346_363del	NP_000095.2:p.Asp116_Ala121del
NM_000104.4:c.346_363del MANE Select	NP_000095.2:p.Asp116_Ala121del