Canonical Allele Identifier: CA10615372
Community Standard Title: NM_000104.4(CYP1B1):c.*2151T>C
Gene: CYP1B1 HGNC NCBI
RMDN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38068571A>G , CM000664.2:g.38068571A>G GRCh38
NC_000002.11:g.38295714A>G , CM000664.1:g.38295714A>G GRCh37
NC_000002.10:g.38149218A>G NCBI36
NG_008386.2:g.12531T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000104.4:c.*2151T>C (CYP1B1) MANE Select NP_000095.2:n.*2151T>C
ENST00000610745.5:c.*2151T>C (CYP1B1) MANE Select ENSP00000478561.1:n.*2151T>C
NM_000104.3:c.*2151T>C (CYP1B1) NP_000095.2:n.*2151T>C
ENST00000490576.2:c.*2151T>C (CYP1B1) ENSP00000478839.2:n.*2151T>C
ENST00000491456.1:n.184+607T>C (CYP1B1)
ENST00000610745.4:c.*2151T>C (CYP1B1) ENSP00000478561.1:n.*2151T>C
XM_011532615.3:c.*1617A>G (RMDN2) XP_011530917.2:n.*1617A>G
XM_017003475.2:c.*1581A>G (RMDN2) XP_016858964.1:n.*1581A>G
XR_939668.1:n.3571A>G (RMDN2)
XR_939668.3:n.3702A>G (RMDN2)