Canonical Allele Identifier: CA10613764
Community Standard Title: NM_000104.4(CYP1B1):c.*2333G>A
Gene: CYP1B1 HGNC NCBI
RMDN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38068389C>T , CM000664.2:g.38068389C>T GRCh38
NC_000002.11:g.38295532C>T , CM000664.1:g.38295532C>T GRCh37
NC_000002.10:g.38149036C>T NCBI36
NG_008386.2:g.12713G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000104.4:c.*2333G>A (CYP1B1) MANE Select NP_000095.2:n.*2333G>A
ENST00000610745.5:c.*2333G>A (CYP1B1) MANE Select ENSP00000478561.1:n.*2333G>A
NM_000104.3:c.*2333G>A (CYP1B1) NP_000095.2:n.*2333G>A
ENST00000490576.2:c.*2333G>A (CYP1B1) ENSP00000478839.2:n.*2333G>A
ENST00000491456.1:n.184+789G>A (CYP1B1)
ENST00000610745.4:c.*2333G>A (CYP1B1) ENSP00000478561.1:n.*2333G>A
XM_011532615.3:c.*1435C>T (RMDN2) XP_011530917.2:n.*1435C>T
XM_017003475.2:c.*1399C>T (RMDN2) XP_016858964.1:n.*1399C>T
XR_939668.1:n.3389C>T (RMDN2)
XR_939668.3:n.3520C>T (RMDN2)