Canonical Allele Identifier: CA7659989
Gene: CYP1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.74752211G>C
GRCh37 chr15:g.75044552G>C
Revel Score:
ENST00000343932 (MANE Select) 0.937
gnomAD v2:
15:75044552 G / C
gnomAD v4:
chr15-74752211-G-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
dbSNP:
72547515
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74752211G>C , CM000677.2:g.74752211G>C GRCh38
NC_000015.9:g.75044552G>C , CM000677.1:g.75044552G>C GRCh37
NC_000015.8:g.72831605G>C NCBI36
NG_008431.1:g.34670G>C
NG_008431.2:g.34670G>C
NG_061543.1:g.8367G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.1130G>C MANE Select ENSP00000342007.4:p.Arg377Pro
ENST00000343932.4:c.1130G>C ENSP00000342007.4:p.Arg377Pro
NM_000761.4:c.1130G>C NP_000752.2:p.Arg377Pro
NM_000761.5:c.1130G>C MANE Select NP_000752.2:p.Arg377Pro
Search 100 bp 5'
Search 100 bp 3'