Canonical Allele Identifier: CA346327541
Gene: CYP1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071101G>C , CM000664.2:g.38071101G>C GRCh38
NC_000002.11:g.38298244G>C , CM000664.1:g.38298244G>C GRCh37
NC_000002.10:g.38151748G>C NCBI36
NG_008386.2:g.10001C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1253C>G ENSP00000478839.2:p.Thr418Ser
ENST00000610745.5:c.1253C>G MANE Select ENSP00000478561.1:p.Thr418Ser
ENST00000492443.1:n.631C>G
ENST00000494864.1:c.140C>G ENSP00000479876.1:p.Thr47Ser
ENST00000610745.4:c.1253C>G ENSP00000478561.1:p.Thr418Ser
ENST00000614273.1:c.1253C>G ENSP00000483678.1:p.Thr418Ser
NM_000104.3:c.1253C>G NP_000095.2:p.Thr418Ser
NM_000104.4:c.1253C>G MANE Select NP_000095.2:p.Thr418Ser