Canonical Allele Identifier: CA393177292
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs2063305551

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74749881G>T , CM000677.2:g.74749881G>T GRCh38
NC_000015.9:g.75042222G>T , CM000677.1:g.75042222G>T GRCh37
NC_000015.8:g.72829275G>T NCBI36
NG_008431.1:g.32340G>T
NG_008431.2:g.32340G>T
NG_061543.1:g.6037G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.143G>T MANE Select ENSP00000342007.4:p.Trp48Leu
ENST00000343932.4:c.143G>T ENSP00000342007.4:p.Trp48Leu
NM_000761.4:c.143G>T NP_000752.2:p.Trp48Leu
NM_000761.5:c.143G>T MANE Select NP_000752.2:p.Trp48Leu