Canonical Allele Identifier: CA393165037
Gene: CYP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74752129G>T , CM000677.2:g.74752129G>T GRCh38
NC_000015.9:g.75044470G>T , CM000677.1:g.75044470G>T GRCh37
NC_000015.8:g.72831523G>T NCBI36
NG_008431.1:g.34588G>T
NG_008431.2:g.34588G>T
NG_061543.1:g.8285G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343932.5:c.1048G>T MANE Select ENSP00000342007.4:p.Val350Leu
ENST00000343932.4:c.1048G>T ENSP00000342007.4:p.Val350Leu
NM_000761.4:c.1048G>T NP_000752.2:p.Val350Leu
NM_000761.5:c.1048G>T MANE Select NP_000752.2:p.Val350Leu