Canonical Allele Identifier: CA768426481

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1437566017
• MyVariant Identifiers: chr2:g.38302697_38302698del (hg19) ; chr2:g.38075554_38075555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075557_38075558del , CM000664.2:g.38075557_38075558del	GRCh38
NC_000002.11:g.38302700_38302701del , CM000664.1:g.38302700_38302701del	GRCh37
NC_000002.10:g.38156204_38156205del	NCBI36
NG_008386.2:g.5547_5548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-166_-1-165del	ENSP00000478839.2:n.-1-166_-1-165del
ENST00000610745.5:c.-1-166_-1-165del MANE Select	ENSP00000478561.1:n.-1-166_-1-165del
ENST00000490576.1:c.-1-166_-1-165del	ENSP00000478839.1:n.-1-166_-1-165del
ENST00000494864.1:c.-70-4245_-70-4244del	ENSP00000479876.1:n.-70-4245_-70-4244del
ENST00000610745.4:c.-1-166_-1-165del	ENSP00000478561.1:n.-1-166_-1-165del
ENST00000613082.1:n.375+225_375+226del
ENST00000614273.1:c.-1-166_-1-165del	ENSP00000483678.1:n.-1-166_-1-165del
NM_000104.3:c.-1-166_-1-165del	NP_000095.2:n.-1-166_-1-165del
XM_011533236.1:c.171_172del	XP_011531538.1:p.Pro58LeufsTer13
NM_000104.4:c.-1-166_-1-165del MANE Select	NP_000095.2:n.-1-166_-1-165del