Canonical Allele Identifier: CA425864522
Gene: CYP1B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.38298237A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071094A>C , CM000664.2:g.38071094A>C GRCh38
NC_000002.11:g.38298237A>C , CM000664.1:g.38298237A>C GRCh37
NC_000002.10:g.38151741A>C NCBI36
NG_008386.2:g.10008T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1260T>G ENSP00000478839.2:p.Val420=
ENST00000610745.5:c.1260T>G MANE Select ENSP00000478561.1:p.Val420=
ENST00000492443.1:n.638T>G
ENST00000494864.1:c.147T>G ENSP00000479876.1:p.Val49=
ENST00000610745.4:c.1260T>G ENSP00000478561.1:p.Val420=
ENST00000614273.1:c.1260T>G ENSP00000483678.1:p.Val420=
NM_000104.3:c.1260T>G NP_000095.2:p.Val420=
NM_000104.4:c.1260T>G MANE Select NP_000095.2:p.Val420=