Canonical Allele Identifier: CA346327451

Gene: CYP1B1

Linked Data

• MyVariant Identifiers: chr2:g.38298200T>A (hg19) ; chr2:g.38071057T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071057T>A , CM000664.2:g.38071057T>A	GRCh38
NC_000002.11:g.38298200T>A , CM000664.1:g.38298200T>A	GRCh37
NC_000002.10:g.38151704T>A	NCBI36
NG_008386.2:g.10045A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1297A>T	ENSP00000478839.2:p.Lys433Ter
ENST00000610745.5:c.1297A>T MANE Select	ENSP00000478561.1:p.Lys433Ter
ENST00000492443.1:n.675A>T
ENST00000494864.1:c.184A>T	ENSP00000479876.1:p.Lys62Ter
ENST00000610745.4:c.1297A>T	ENSP00000478561.1:p.Lys433Ter
ENST00000614273.1:c.1297A>T	ENSP00000483678.1:p.Lys433Ter
NM_000104.3:c.1297A>T	NP_000095.2:p.Lys433Ter
NM_000104.4:c.1297A>T MANE Select	NP_000095.2:p.Lys433Ter