Canonical Allele Identifier: CA2406577850
Community Standard Title: NM_000106.6(CYP2D6):c.1401G= (p.Ser467=)
Gene: CYP2D6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42126667C= , CM000684.2:g.42126667C= GRCh38
NC_000022.10:g.42522669C= , CM000684.1:g.42522669C= GRCh37
NC_000022.9:g.40852613C= NCBI36
NG_008376.3:g.8325G=
NG_008376.4:g.9144G=

Transcript Alleles

HGVS Amino-acid Change
NM_000106.6:c.1401G= MANE Select NP_000097.3:p.Ser467=
ENST00000645361.2:c.1401G= MANE Select ENSP00000496150.1:p.Ser467=
NM_000106.5:c.1401G= NP_000097.3:p.Ser467=
NM_001025161.2:c.1248G= NP_001020332.2:p.Ser416=
NM_001025161.3:c.1248G= NP_001020332.2:p.Ser416=
ENST00000359033.4:c.1248G= ENSP00000351927.4:p.Ser416=
ENST00000360124.10:c.1199G= ENSP00000353241.6:n.1199G=
ENST00000360124.9:c.1019G= ENSP00000353241.5:n.1019G=
ENST00000360608.9:c.1401G= ENSP00000353820.5:p.Ser467=
ENST00000389970.7:c.1392G= ENSP00000374620.4:p.Ser464=
ENST00000488442.1:n.2125G=
XM_011529966.1:c.1401G= XP_011528268.1:p.Ser467=
XM_011529967.1:c.1401G= XP_011528269.1:p.Ser467=
XM_011529968.1:c.1401G= XP_011528270.1:p.Ser467=
XM_011529969.1:c.1257G= XP_011528271.1:p.Ser419=
XM_011529970.1:c.1248G= XP_011528272.1:p.Ser416=
XM_011529971.1:c.1257G= XP_011528273.1:p.Ser419=