Canonical Allele Identifier: CA346327478

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1212135470
• gnomAD v2: 2-38298214-T-C
• gnomAD v3: 2-38071071-T-C
• gnomAD v4: 2-38071071-T-C
• MyVariant Identifiers: chr2:g.38298214T>C (hg19) ; chr2:g.38071071T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071071T>C , CM000664.2:g.38071071T>C	GRCh38
NC_000002.11:g.38298214T>C , CM000664.1:g.38298214T>C	GRCh37
NC_000002.10:g.38151718T>C	NCBI36
NG_008386.2:g.10031A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1283A>G	ENSP00000478839.2:p.Asn428Ser
ENST00000610745.5:c.1283A>G MANE Select	ENSP00000478561.1:p.Asn428Ser
ENST00000492443.1:n.661A>G
ENST00000494864.1:c.170A>G	ENSP00000479876.1:p.Asn57Ser
ENST00000610745.4:c.1283A>G	ENSP00000478561.1:p.Asn428Ser
ENST00000614273.1:c.1283A>G	ENSP00000483678.1:p.Asn428Ser
NM_000104.3:c.1283A>G	NP_000095.2:p.Asn428Ser
NM_000104.4:c.1283A>G MANE Select	NP_000095.2:p.Asn428Ser