Canonical Allele Identifier: CA532236924

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1176401099
• gnomAD v2: 2-38302650-ACT-A
• gnomAD v3: 2-38075507-ACT-A
• gnomAD v4: 2-38075507-ACT-A
• MyVariant Identifiers: chr2:g.38302651_38302652del (hg19) ; chr2:g.38075508_38075509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075512_38075513del , CM000664.2:g.38075512_38075513del	GRCh38
NC_000002.11:g.38302655_38302656del , CM000664.1:g.38302655_38302656del	GRCh37
NC_000002.10:g.38156159_38156160del	NCBI36
NG_008386.2:g.5593_5594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-120_-1-119del	ENSP00000478839.2:n.-1-120_-1-119del
ENST00000610745.5:c.-1-120_-1-119del MANE Select	ENSP00000478561.1:n.-1-120_-1-119del
ENST00000490576.1:c.-1-120_-1-119del	ENSP00000478839.1:n.-1-120_-1-119del
ENST00000494864.1:c.-70-4199_-70-4198del	ENSP00000479876.1:n.-70-4199_-70-4198del
ENST00000610745.4:c.-1-120_-1-119del	ENSP00000478561.1:n.-1-120_-1-119del
ENST00000613082.1:n.375+271_375+272del
ENST00000614273.1:c.-1-120_-1-119del	ENSP00000483678.1:n.-1-120_-1-119del
NM_000104.3:c.-1-120_-1-119del	NP_000095.2:n.-1-120_-1-119del
XM_011533236.1:c.126_127del	XP_011531538.1:p.Trp43GlufsTer28
NM_000104.4:c.-1-120_-1-119del MANE Select	NP_000095.2:n.-1-120_-1-119del