Canonical Allele Identifier: CA324664531
Community Standard Title: NM_000106.6(CYP2D6):c.1435G>C (p.Gly479Arg)
Gene: CYP2D6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42126633C>G , CM000684.2:g.42126633C>G GRCh38
NC_000022.10:g.42522635C>G , CM000684.1:g.42522635C>G GRCh37
NC_000022.9:g.40852579C>G NCBI36
NG_008376.3:g.8359G>C
NG_008376.4:g.9178G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000106.6:c.1435G>C MANE Select NP_000097.3:p.Gly479Arg
ENST00000645361.2:c.1435G>C MANE Select ENSP00000496150.1:p.Gly479Arg
NM_000106.5:c.1435G>C NP_000097.3:p.Gly479Arg
NM_001025161.2:c.1282G>C NP_001020332.2:p.Gly428Arg
NM_001025161.3:c.1282G>C NP_001020332.2:p.Gly428Arg
ENST00000359033.4:c.1282G>C ENSP00000351927.4:p.Gly428Arg
ENST00000360124.10:c.1233G>C ENSP00000353241.6:n.1233G>C
ENST00000360124.9:c.1053G>C ENSP00000353241.5:n.1053G>C
ENST00000360608.9:c.1435G>C ENSP00000353820.5:p.Gly479Arg
ENST00000389970.7:c.1426G>C ENSP00000374620.4:p.Gly476Arg
ENST00000488442.1:n.2159G>C
XM_011529966.1:c.1435G>C XP_011528268.1:p.Gly479Arg
XM_011529967.1:c.1435G>C XP_011528269.1:p.Gly479Arg
XM_011529968.1:c.1435G>C XP_011528270.1:p.Gly479Arg
XM_011529969.1:c.1291G>C XP_011528271.1:p.Gly431Arg
XM_011529970.1:c.1282G>C XP_011528272.1:p.Gly428Arg
XM_011529971.1:c.1291G>C XP_011528273.1:p.Gly431Arg