Canonical Allele Identifier: CA2658668045

Gene: CYP1B1

Linked Data

• gnomAD v4: 2-38075622-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075622C>A , CM000664.2:g.38075622C>A	GRCh38
NC_000002.11:g.38302765C>A , CM000664.1:g.38302765C>A	GRCh37
NC_000002.10:g.38156269C>A	NCBI36
NG_008386.2:g.5480G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-233G>T	ENSP00000478839.2:n.-1-233G>T
ENST00000610745.5:c.-2+158G>T MANE Select	ENSP00000478561.1:n.-2+158G>T
ENST00000490576.1:c.-1-233G>T	ENSP00000478839.1:n.-1-233G>T
ENST00000494864.1:c.-70-4312G>T	ENSP00000479876.1:n.-70-4312G>T
ENST00000610745.4:c.-2+158G>T	ENSP00000478561.1:n.-2+158G>T
ENST00000613082.1:n.375+158G>T
ENST00000614273.1:c.-2+154G>T	ENSP00000483678.1:n.-2+154G>T
NM_000104.3:c.-2+158G>T	NP_000095.2:n.-2+158G>T
XM_011533236.1:c.236C>A	XP_011531538.1:p.Pro79His
NM_000104.4:c.-2+158G>T MANE Select	NP_000095.2:n.-2+158G>T