Canonical Allele Identifier: CA532236920

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1310411541
• gnomAD v2: 2-38302611-CTG-C
• gnomAD v3: 2-38075468-CTG-C
• gnomAD v4: 2-38075468-CTG-C
• MyVariant Identifiers: chr2:g.38302612_38302613del (hg19) ; chr2:g.38075469_38075470del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075469_38075470del , CM000664.2:g.38075469_38075470del	GRCh38
NC_000002.11:g.38302612_38302613del , CM000664.1:g.38302612_38302613del	GRCh37
NC_000002.10:g.38156116_38156117del	NCBI36
NG_008386.2:g.5632_5633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-81_-1-80del	ENSP00000478839.2:n.-1-81_-1-80del
ENST00000610745.5:c.-1-81_-1-80del MANE Select	ENSP00000478561.1:n.-1-81_-1-80del
ENST00000490576.1:c.-1-81_-1-80del	ENSP00000478839.1:n.-1-81_-1-80del
ENST00000494864.1:c.-70-4160_-70-4159del	ENSP00000479876.1:n.-70-4160_-70-4159del
ENST00000610745.4:c.-1-81_-1-80del	ENSP00000478561.1:n.-1-81_-1-80del
ENST00000613082.1:n.375+310_375+311del
ENST00000614273.1:c.-1-81_-1-80del	ENSP00000483678.1:n.-1-81_-1-80del
NM_000104.3:c.-1-81_-1-80del	NP_000095.2:n.-1-81_-1-80del
XM_011533236.1:c.83_84del	XP_011531538.1:p.Leu28ArgfsTer3
NM_000104.4:c.-1-81_-1-80del MANE Select	NP_000095.2:n.-1-81_-1-80del