Canonical Allele Identifier: CA393179227
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1331022381
gnomAD v2: 15-75042627-C-T
gnomAD v4: 15-74750286-C-T
MyVariant Identifiers: chr15:g.75042627C>T (hg19) chr15:g.74750286C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750286C>T , CM000677.2:g.74750286C>T GRCh38
NC_000015.9:g.75042627C>T , CM000677.1:g.75042627C>T GRCh37
NC_000015.8:g.72829680C>T NCBI36
NG_008431.1:g.32745C>T
NG_008431.2:g.32745C>T
NG_061543.1:g.6442C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.548C>T MANE Select ENSP00000342007.4:p.Pro183Leu
ENST00000343932.4:c.548C>T ENSP00000342007.4:p.Pro183Leu
NM_000761.4:c.548C>T NP_000752.2:p.Pro183Leu
NM_000761.5:c.548C>T MANE Select NP_000752.2:p.Pro183Leu
Search 100 bp 5'
Search 100 bp 3'