Canonical Allele Identifier: CA491489550
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1352233952
gnomAD v3: 15-74755087-G-A
gnomAD v4: 15-74755087-G-A
MyVariant Identifiers: chr15:g.75047428G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755087G>A , CM000677.2:g.74755087G>A GRCh38
NC_000015.9:g.75047428G>A , CM000677.1:g.75047428G>A GRCh37
NC_000015.8:g.72834481G>A NCBI36
NG_008431.1:g.37546G>A
NG_008431.2:g.37546G>A
NG_061543.1:g.11243G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.1550G>A MANE Select ENSP00000342007.4:p.Ter517=
ENST00000343932.4:c.1550G>A ENSP00000342007.4:p.Ter517=
NM_000761.4:c.1550G>A NP_000752.2:p.Ter517=
NM_000761.5:c.1550G>A MANE Select NP_000752.2:p.Ter517=
Search 100 bp 5'
Search 100 bp 3'