Canonical Allele Identifier: CA393170924
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1171948620
gnomAD v2: 15-75047427-T-C
gnomAD v4: 15-74755086-T-C
MyVariant Identifiers: chr15:g.75047427T>C (hg19) chr15:g.74755086T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755086T>C , CM000677.2:g.74755086T>C GRCh38
NC_000015.9:g.75047427T>C , CM000677.1:g.75047427T>C GRCh37
NC_000015.8:g.72834480T>C NCBI36
NG_008431.1:g.37545T>C
NG_008431.2:g.37545T>C
NG_061543.1:g.11242T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.1549T>C MANE Select ENSP00000342007.4:p.Ter517Arg
ENST00000343932.4:c.1549T>C ENSP00000342007.4:p.Ter517Arg
NM_000761.4:c.1549T>C NP_000752.2:p.Ter517Arg
NM_000761.5:c.1549T>C MANE Select NP_000752.2:p.Ter517Arg
Search 100 bp 5'
Search 100 bp 3'