Canonical Allele Identifier: CA1245625048
Gene: CYP1B1 HGNC NCBI
RMDN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38068774A= , CM000664.2:g.38068774A= GRCh38
NC_000002.11:g.38295917A= , CM000664.1:g.38295917A= GRCh37
NC_000002.10:g.38149421A= NCBI36
NG_008386.2:g.12328T=

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.*1948T= (CYP1B1) ENSP00000478839.2:n.*1948T=
ENST00000610745.5:c.*1948T= (CYP1B1) MANE Select ENSP00000478561.1:n.*1948T=
ENST00000491456.1:n.184+404T= (CYP1B1)
ENST00000610745.4:c.*1948T= (CYP1B1) ENSP00000478561.1:n.*1948T=
NM_000104.3:c.*1948T= (CYP1B1) NP_000095.2:n.*1948T=
XR_939668.1:n.3774A= (RMDN2)
XM_011532615.3:c.*1820A= (RMDN2) XP_011530917.2:n.*1820A=
XM_017003475.2:c.*1784A= (RMDN2) XP_016858964.1:n.*1784A=
XR_939668.3:n.3905A= (RMDN2)
NM_000104.4:c.*1948T= (CYP1B1) MANE Select NP_000095.2:n.*1948T=