Canonical Allele Identifier: CA491489284
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1196434185
gnomAD v2: 15-75042593-C-T
gnomAD v3: 15-74750252-C-T
gnomAD v4: 15-74750252-C-T
MyVariant Identifiers: chr15:g.75042593C>T (hg19) chr15:g.74750252C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750252C>T , CM000677.2:g.74750252C>T GRCh38
NC_000015.9:g.75042593C>T , CM000677.1:g.75042593C>T GRCh37
NC_000015.8:g.72829646C>T NCBI36
NG_008431.1:g.32711C>T
NG_008431.2:g.32711C>T
NG_061543.1:g.6408C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.514C>T MANE Select ENSP00000342007.4:p.Leu172=
ENST00000343932.4:c.514C>T ENSP00000342007.4:p.Leu172=
NM_000761.4:c.514C>T NP_000752.2:p.Leu172=
NM_000761.5:c.514C>T MANE Select NP_000752.2:p.Leu172=
Search 100 bp 5'
Search 100 bp 3'