Canonical Allele Identifier: CA2749544715
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071297_38071298insAGA , CM000664.2:g.38071297_38071298insAGA GRCh38
NC_000002.11:g.38298440_38298441insAGA , CM000664.1:g.38298440_38298441insAGA GRCh37
NC_000002.10:g.38151944_38151945insAGA NCBI36
NG_008386.2:g.9804_9805insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1056_1057insTCT ENSP00000478839.2:p.Val352_Gln353insSer
ENST00000610745.5:c.1056_1057insTCT MANE Select ENSP00000478561.1:p.Val352_Gln353insSer
ENST00000492443.1:n.434_435insTCT
ENST00000494864.1:c.-58_-57insTCT ENSP00000479876.1:n.-58_-57insTCT
ENST00000610745.4:c.1056_1057insTCT ENSP00000478561.1:p.Val352_Gln353insSer
ENST00000613082.1:n.451_452insTCT
ENST00000614273.1:c.1056_1057insTCT ENSP00000483678.1:p.Val352_Gln353insSer
NM_000104.3:c.1056_1057insTCT NP_000095.2:p.Val352_Gln353insSer
NM_000104.4:c.1056_1057insTCT MANE Select NP_000095.2:p.Val352_Gln353insSer