Canonical Allele Identifier: CA346329277

Gene: CYP1B1

Linked Data

• gnomAD v4: 2-38074964-T-C
• MyVariant Identifiers: chr2:g.38302107T>C (hg19) ; chr2:g.38074964T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38074964T>C , CM000664.2:g.38074964T>C	GRCh38
NC_000002.11:g.38302107T>C , CM000664.1:g.38302107T>C	GRCh37
NC_000002.10:g.38155611T>C	NCBI36
NG_008386.2:g.6138A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.425A>G	ENSP00000478839.2:p.Lys142Arg
ENST00000610745.5:c.425A>G MANE Select	ENSP00000478561.1:p.Lys142Arg
ENST00000490576.1:c.425A>G	ENSP00000478839.1:p.Lys142Arg
ENST00000494864.1:c.-70-3654A>G	ENSP00000479876.1:n.-70-3654A>G
ENST00000610745.4:c.425A>G	ENSP00000478561.1:p.Lys142Arg
ENST00000613082.1:n.376-556A>G
ENST00000614273.1:c.425A>G	ENSP00000483678.1:p.Lys142Arg
NM_000104.3:c.425A>G	NP_000095.2:p.Lys142Arg
NM_000104.4:c.425A>G MANE Select	NP_000095.2:p.Lys142Arg