Canonical Allele Identifier: CA768462345

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071132_38071133del , CM000664.2:g.38071132_38071133del	GRCh38
NC_000002.11:g.38298275_38298276del , CM000664.1:g.38298275_38298276del	GRCh37
NC_000002.10:g.38151779_38151780del	NCBI36
NG_008386.2:g.9971_9972del

Transcript Alleles

HGVS	Amino-acid Change
NM_000104.4:c.1223_1224del MANE Select	NP_000095.2:p.Ser408CysfsTer22
ENST00000610745.5:c.1223_1224del MANE Select	ENSP00000478561.1:p.Ser408CysfsTer22
NM_000104.3:c.1223_1224del	NP_000095.2:p.Ser408CysfsTer22
ENST00000490576.2:c.1223_1224del	ENSP00000478839.2:p.Ser408CysfsTer22
ENST00000492443.1:n.601_602del
ENST00000494864.1:c.110_111del	ENSP00000479876.1:p.Ser37CysfsTer22
ENST00000610745.4:c.1223_1224del	ENSP00000478561.1:p.Ser408CysfsTer22
ENST00000614273.1:c.1223_1224del	ENSP00000483678.1:p.Ser408CysfsTer22